Recombinant Human 3-Oxo-5-Alpha-Steroid 4-Dehydrogenase 2 (SRD5A2) Protein (His-KSI)

Name: Recombinant Human 3-Oxo-5-Alpha-Steroid 4-Dehydrogenase 2 (SRD5A2) Protein (His-KSI)
Brand: Beta LifeScience
SKU: BLC-07242P
Availability: InStock

Greater than 85% as determined by SDS-PAGE.

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Product Overview

Description	Recombinant Human 3-Oxo-5-Alpha-Steroid 4-Dehydrogenase 2 (SRD5A2) Protein (His-KSI) is produced by our E.coli expression system. This is a protein fragment.
Purity	Greater than 85% as determined by SDS-PAGE.
Uniprotkb	P31213
Target Symbol	SRD5A2
Species	Homo sapiens (Human)
Expression System	E.coli
Tag	N-6His-KSI
Target Protein Sequence	KPSGYGKHTESLKPAATRLPARAAWFLQELPSFAVPAGILARQ
Expression Range	29-71aa
Protein Length	Partial
Mol. Weight	20.0 kDa
Research Area	Cell Biology
Form	Liquid or Lyophilized powder
Buffer	Liquid form: default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
Reconstitution	Briefly centrifuged the vial prior to opening to bring the contents to the bottom. Reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL. It is recommended to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. The default final concentration of glycerol is 50%.
Storage	1. Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. 2. Avoid repeated freeze-thaw cycles. 3. Store working aliquots at 4°C for up to one week. 4. In general, protein in liquid form is stable for up to 6 months at -20°C/-80°C. Protein in lyophilized powder form is stable for up to 12 months at -20°C/-80°C.
Notes	Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.

Target Details

Target Function	Converts testosterone (T) into 5-alpha-dihydrotestosterone (DHT) and progesterone or corticosterone into their corresponding 5-alpha-3-oxosteroids. It plays a central role in sexual differentiation and androgen physiology.
Subcellular Location	Microsome membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein.
Protein Families	Steroid 5-alpha reductase family
Database References	HGNC: 11285 OMIM: 264600 KEGG: hsa:6716 UniGene: Hs.458345
Associated Diseases	Pseudovaginal perineoscrotal hypospadias (PPSH)
Tissue Specificity	Expressed in high levels in the prostate and many other androgen-sensitive tissues.

Gene Functions References

A significant positive association of mRNA expression level and a negative association of methylation level of the SRD5A2 gene with the mRNA expression levels of CYP1A1 and CYP1B1 genes in the preputial tissue of patients with hypospadias. PMID: 29080015
This meta-analysis suggested that the V89L polymorphism definitely increases the risk of hypospadias, and the C allele is a genetic risk factor for hypospadias occurrence PMID: 28713005
rs523349 (Val89Leu), but not rs9282858, significantly associated with risk of miscarriage, mainly in the second trimester of pregnancy PMID: 28410957
mutations of the SRD5A2 gene are the main causes of posterior hypospadias PMID: 28663096
Lack of SRD5A2 expression in the prostate induces an androgenic to oestrogenic switch in human benign prostatic tissues. PMID: 28940538
deficiency of 5-alpha reductase type 2 was considered and SRD5A2 was sequenced. This identified homozygous pathogenic variants in SRD5A2 (p. Pro212Arg), which confirmed a diagnosis of deficiency of 5-alpha reductase type 2 PMID: 28544750
Chromosomal anomalies and mutations of the SRD5A2 gene are associated with hypospadias. PMID: 28397209
Polymorphism in the SRD5A2 gene is associated with hypospadias. PMID: 27848231
In a recent study we reported associations between ALTs and single nucleotide polymorphisms (SNPs) in the genes encoding estrogen receptor 1 (ESR1), steroid-5-alpha-reductase, type 2 (SRD5A2) and sex hormone-binding globulin (SHBG). No associations between the previously associated SNPs in the genes ESR1 and SRD5A2 and autistic-like traits could be seen in the large replication sample. PMID: 26930261
Mutations in the SRD5A2 cause a disorder of 46,XY sex development, termed 5alpha-reductase type 2 deficiency. (Review) PMID: 27224879
Meta-analysis of 20 publications incorporating 30 case-control studies indicated that the SRD5A2 rs9282858 polymorphism may be a susceptible factor to prostate cancer. PMID: 28489754
Mutations of the SRD5A2 gene is associated with 46, XY disorders of sex development. PMID: 27849622
p.Ala65Pro mutation in the SRD5A2 gene causes 5alphaRD2 deficiency, especially in Turkey. V89L polymorphism may also be an important factor in the development of external genitalia PMID: 26761946
deletion of exon 2 in the SRD5A2 gene causes various degrees of genital ambiguity leading to different sex of rearing in affected family members PMID: 27086719
Mutations in SRD5A2 gene were found in 46, XY DSD children with pediatric hypospadias. PMID: 27051040
Diagnosis of 5alpha-reductase 2 deficiency with assessment of the SRD5A2 gene may help in appropriate gender assignment. PMID: 26453174
Results suggest that SRD5A2 controls cell migration by indirectly regulating ERK/MAPK pathway in prostate cancer cells. PMID: 26092425
Metabolic syndrome develops more frequently in testicular cancer survivors homozygous or heterozygous variant for SNP rs523349 in SRD5A2. PMID: 26751392
the V89L and TA repeat polymorphisms of SRD5A2 gene were found to have no significant associations with breast cancer PMID: 26345832
In prostate cancer, increased DNA methylation of SRD5A2 and CYP11A1 related to androgen biosynthesis functions may play a role in biochemical recurrence after patients' prostatectomy PMID: 26332453
SRD5A2 gene polymorphisms are associated with the risk of benign prostatic hyperplasia but not prostate cancer. PMID: 25735326
methylation of SRD5A2 is regulated by DNA methyltransferase 1, and inflammatory mediators such as tumor necrosis factor alpha, NF-kappaB, and IL-6 regulate DNA methyltransferase 1 expression and thereby affect SRD5A2 promoter methylation and gene expression. PMID: 25700986
High 5alpha-reductase activity due to the polymorphism in SRD5A2 may contribute to resistance to androgen deprivation therapy. PMID: 26169017
Manipulation of SRD5A2 activity can regulate lipogenesis in human hepatocytes in vitro. PMID: 25974403
Expression of the genes HSD3B1, HSD17B3, and SRD5A2 was significantly increased in BPH tissues compared to normal adjacent prostate tissues. PMID: 24810473
there was no significant association between SRD5A2 SNPs and the risk of prostate cancer in the Korean population PMID: 25598933
This cohort study describes the phenotypic, biochemical and long-term outcome in 11 Chinese patients with 5alpha-RD2 deficiency and defines the genotypic spectrum of SRD5A2 mutations in China. PMID: 24665940
The SRD5A2 V89L polymorphism was not associated with the risk of prostate cancer. PMID: 25310105
study concludes a significant proportion of children with presumptive diagnosis of androgen insensitivity syndrome (AIS) has normal AR gene; a significant number of children with presumptive diagnosis of AIS have mutations in SRD5A2 gene and are clinically and biochemically indistinguishable from AIS PMID: 24737579
homozygous mutation in exon 2 of SRD5A2 gene was identified in two 46,XY affected siblings raised as females. PMID: 22272144
SRD5A2 genotypes significantly affect breast cancer risk in the South Indian populations PMID: 24365257
a 32% increase in intraprostatic testosterone levels was observed in the presence of the high-risk SRD5A rs2208532 polymorphism PMID: 24277450
genetic association study in population of boys in China: Data suggest mutations in SRD5A2 [steroid-5a-reductase, alpha peptide 2] (and possibly SF1/NR5A1 [steroidogenic factor 1]; probably not AR [androgen receptor]) are associated with hypospadias. PMID: 23729601
Premature termination of SRD5A2 enzyme caused by insertion mutations in two unrelated microphallus patients. PMID: 24012728
the CYP11A1, CYP17A1, HSD3B2, SRD5A2, and HSD17B6 mRNA levels in metastases were significantly lower. PMID: 24244276
study suggest that SNPs in sex steroid related genes, known to affect gene expression (rs2747648 in ESR1) and enzymatic activity (Leu89Val in SRD5A2), seem to be associated with ALTs in a general population. PMID: 23867117
This review discusses the 5alpha-reductase-2 deficiency syndrome and its impact on human fertility. PMID: 24412121
a novel homozygous frame-shift mutation (c.453delC)in patients with ambiguous genitalia characterized by perineo-scrotal hypospadias, bifid scrotum, clitoris like phallus, palpable testes in inguinal canal and pseudovagina PMID: 23664981
Androgen-metaboliizing enzymes, 17betaHSD5 and 5alpha1 immunoreactivity was decreased in metastatic lymph nodes of breast cancers. PMID: 23953348
functional variation within SRD5A2 influences, in a sex-specific way, the severity of post-traumatic stress symptoms and risk for diagnosis of PTSD PMID: 23505265
V89L, but not A49T, polymorphism of SRD5A2 are not likely to have a major contribution to prostate cancer development. PMID: 23277398
The functionally relevant V89L SRD5A2 polymorphism is significantly implicated in alcohol craving in male patients during withdrawal. PMID: 22707254
study characterized clinical features and genetically analyzed the SRD5A2 gene in 3 Chinese steroid 5alpha-reductase type 2 deficiency patients; 2 compound heterozygous mutations in SRD5A2 gene were identified: p.G203S/p.R246Q in patients 1 and 2 and p.G203S/c.655delT in patient 3 PMID: 23329752
A heterozygous mutation of SRD5A2 was found in a patient with 46, XY disorders of sexual development. The same mutation was found in the mother. An intronic (1-2) homozygous T>C transition was also found; both parents had a heterozygous transition. PMID: 23112260
A missense mutation in exon 4 of SRD5A2 (resulting in amino acid substitution, E200K) has been identified in 4 sisters with 46, XY disorder of sex development; the sisters were born to consanguineous parents. [CASE REPORT] PMID: 22362597
SRD5A2 deficiency should be included in differential diagnosis of all newborns with 46,XY disorders of sex development with normal testosterone production before gender assignment. [REVIEW] PMID: 23044880
The rs13395648 TC genotype was associated with a significantly lower semen volume compared with the TT genotype. PMID: 22735779
The 5alphaR-positive apocrine carcinomas were clinicopathologically more aggressive than 5alphaR-negative cases. PMID: 22486281
Study identiflied a novel SRD5A2 mutation in a Taiwanese newborn with ambiguous genitalia. PMID: 22453073
result suggests that 46,XY DSD patient phenotypes may be influenced by SRD5A2 polymorphism genotypes. SRD5A2 gene mutations may not be as infrequent as previously considered in 46,XY DSD patients with variable degrees of external genitalia virilization PMID: 21631525

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Proteins are sensitive to heat, and freeze-drying can preserve the activity of the majority of proteins. It improves protein stability, extends storage time, and reduces shipping costs. However, freeze-drying can also lead to the loss of the active portion of the protein and cause aggregation and denaturation issues. Nonetheless, these adverse effects can be minimized by incorporating protective agents such as stabilizers, additives, and excipients, and by carefully controlling various lyophilization conditions.

Commonly used protectant include saccharides, polyols, polymers, surfactants, some proteins and amino acids etc. We usually add 8% (mass ratio by volume) of trehalose and mannitol as lyoprotectant. Trehalose can significantly prevent the alter of the protein secondary structure, the extension and aggregation of proteins during freeze-drying process; mannitol is also a universal applied protectant and fillers, which can reduce the aggregation of certain proteins after lyophilization.

Our protein products do not contain carrier protein or other additives (such as bovine serum albumin (BSA), human serum albumin (HSA) and sucrose, etc., and when lyophilized with the solution with the lowest salt content, they often cannot form A white grid structure, but a small amount of protein is deposited in the tube during the freeze-drying process, forming a thin or invisible transparent protein layer.

Reminder: Before opening the tube cap, we recommend that you quickly centrifuge for 20-30 seconds in a small centrifuge, so that the protein attached to the tube cap or the tube wall can be aggregated at the bottom of the tube. Our quality control procedures ensure that each tube contains the correct amount of protein, and although sometimes you can't see the protein powder, the amount of protein in the tube is still very precise.

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