Recombinant Human Protocadherin-19 (S) Protein (hFc)

Name: Recombinant Human Protocadherin-19 (S) Protein (hFc)
Brand: Beta LifeScience
SKU: BLC-06745P
Price: 693.6 USD
Availability: InStock

Greater than 85% as determined by SDS-PAGE.

Collections: Featured viral antigens molecules, Other viral antigens, Recombinant proteins, Viral antigen

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Product Overview

Description	Recombinant Human Protocadherin-19 (S) Protein (hFc) is produced by our Mammalian cell expression system. This is a protein fragment.
Purity	Greater than 85% as determined by SDS-PAGE.
Uniprotkb	Q8TAB3
Target Symbol	S
Species	Homo sapiens (Human)
Expression System	Mammalian cell
Tag	C-hFc
Target Protein Sequence	LINLKYSVEEEQRAGTVIANVAKDAREAGFALDPRQASAFRVVSNSAPHLVDINPSSGLLVTKQKIDRDLLCRQSPKCIISLEVMSSSMEICVIKVEIKDLNDNAPSFPAAQIELEISEAASPGTRIPLDSAYDPDSGSFGVQTYELTPNELFGLEIKTRGDGSRFAELVVEKSLDRETQSHYSFRITALDGGDPPRLGTVGLSIKVTDSNDNNPVFSESTYAVSVPENSPPNTPVIRLNASDPDEGTNGQVVYSFYGYVNDRTRELFQIDPHSGLVTVTGALDYEEGHVYELDVQAKDLGPNSIPAHCKVTVSVLDTNDNPPVINLLSVNSELVEVSESAPPGYVIALVRVSDRDSGLNGRVQCRLLGNVPFRLQEYESFSTILVDGRLDREQHDQYNLTIQARDGGVPMLQSAKSFTVLITDENDNHPHFSKPYYQVIVQENNTPGAYLLSVSARDPDLGLNGSVSYQIVPSQVRDMPVFTYVSINPNSGDIYALRSFNHEQTKAFEFKVLAKDGGLPSLQSNATVRVIILDVNDNTPVITAPPLINGTAEVYIPRNSGIGYLVTVVKAEDYDEGENGRVTYDMTEGDRGFFEIDQVNGEVRTTRTFGESSKSSYELIVVAHDHGKTSLSASALVLIYLSPALDAQESMGSVNLS
Expression Range	22-678aa
Protein Length	Partial
Mol. Weight	100.6 kDa
Research Area	Signal Transduction
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	Potential calcium-dependent cell-adhesion protein.
Subcellular Location	Cell membrane; Single-pass type I membrane protein.
Database References	HGNC: 14270 OMIM: 300088 KEGG: hsa:57526 STRING: 9606.ENSP00000362125 UniGene: Hs.4993
Associated Diseases	Epileptic encephalopathy, early infantile, 9 (EIEE9)
Tissue Specificity	Moderately expressed in all regions of the brain examined, with lowest levels found in the cerebellum. Moderate expression is also found in ovary, and low expression in all other tissues tested. Also detected in primary skin fibroblast.

Gene Functions References

we have added to the characterization of PCDH19-related epilepsy. In addition to epilepsy, affected individuals display a complex neuropsychiatric syndrome in which the behavioral and sleep dysregulation are prominent. PMID: 29377098
reaffirm the similarity between male and female PCDH19-related phenotypes, now also in a later phase of the disorder PMID: 28669061
We report the fifth confirmed male with somatic mosaicism of a novel pathogenic variant c.2147+2 T>C located in the splice site of Intron 1 of the PCDH19 gene, which continues to support that cellular interference is responsible for the pathogenic mechanism PMID: 28462982
This is the second male with somatic mosaicism for PCDH19 deficiency, providing further support for cellular interference as the pathogenic mechanism for this condition, which leads to this unusual mode of inheritance in which females are more severely affected than males. PMID: 27016041
Our results show a large spectrum of intellectual disability and a very high rate of Autism spectrum disorder in patients with epilepsy and PCDH-19 mutations PMID: 27179713
These findings point to multiple defects in peripheral steroidogenesis associated with and potentially relevant to PCDH19-FE. Some of these defects could be addressed by stimulating adrenocortical activity. PMID: 28471529
Results summarized the clinical spectrum of female epilepsy patients with protocadherin 19 (PCDH19) mutations in a Chinese population. PMID: 27527380
mild tonic, fluttering and mild clonic phases were most characteristic of seizures of PCDH19-related epilepsy PMID: 26898795
The study demonistrated that most effective drugs in patients with PCDH19 mutations were bromide and clobazam. PMID: 26820223
PCDH19 has a role in instructing the apico-basal polarity of the progenitor cells, thus regulating the development of a properly organized human brain PMID: 26450854
Two mosaic PCDH19 point mutations are described in male patients with PCDH19-related epilepsy. PMID: 26765483
steroids and in particular neurosteroids (e.g. allopregnanolone) play an important role in PCDH19-FE and represent a realistic therapeutic target. PMID: 26123493
This case report is suggestive of a good response of PCDH19-related Epilepsy to stiripentol PMID: 25510386
This study proposes corticosteroid treatment as an efficacious adjunctive treatment for the acute symptoms of PCDH19-Generalized Convulsive Epilepsy and suggests BBB involvement in this disease. PMID: 25891919
analysis of four novel mutations in the PCDH19 gene found in isolated cases of girls with infantile onset epilepsy PMID: 25227595
The present findings confirm that PCDH19 is a major causative gene for infantile onset familial or sporadic epilepsy in female patients with or without mental retardation. PMID: 25218114
girls with a de novo mutation in PCDH19 presented a delay of expressive language acquisition and lower scores at follow-up testing completed at older ages PMID: 25499160
Epileptic encephalopathy related to mutations in the PCDH19 genes. PMID: 25818041
PCDH19-related epilepsy could be considered a well-defined epileptic syndrome, affecting only females, included in the group of epilepsies with febrile and afebrile seizures [review] PMID: 25204757
This study highlighted the significance of PCDH19 deletion, a unique pattern of initial seizure clusters, and the efficacy of antiepileptic drugs PMID: 23712037
Phenotypic spectrum associated with PCDH19 mutations in Dravet-like and epilepsy and mental retardation limited to females patients and in males with autism spectrum disorders. PMID: 23334464
Mutations of PCDH19 have also been reported in female patients with clinical findings compatible with Dravet syndrome [review] PMID: 23093055
Deletions at PCDH19 cause female-restricted epilepsy with mental retardation. PMID: 22091964
this study describes a PCDH19 mutation segregating from an asymptomatic mother to an epilepsy with mental retardation patient. PMID: 22949144
SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome PMID: 22848613
Mutations in PCDH19 and other genes with rare copy number variations are not responsible for febrile infection-related epilepsy syndrome (FIRES). PMID: 23066759
This study demonistrated that most patients with PCDH19 mutations exhibit a distinctive electroclinical pattern of focal seizures with affective symptoms, suggesting an epileptogenic dysfunction involving the frontotemporal limbic system. PMID: 22946748
This study presented that PCDH19 mutation cause of genetic epilepsy in females. PMID: 22504056
PCDH19 mutation is a relatively frequent cause of epilepsy in Japanese females. PMID: 22050978
case report of missense heterozygous c.1129G>C (p.Asp377His) mutation and acute-onset epilepsy triggered by fever PMID: 21777234
mutations in PCDH19 are a relatively frequent cause of epilepsy in females. PMID: 21053371
missense and frameshift mutations and spectrum of resulting epilepsy phenotypes in female patients PMID: 21480887
findings show that gonadal mosaicism of a PCDH19 mutation in a parent is an important molecular mechanism associated with the inheritance of epilepsy and mental retardation in females PMID: 21519002
Cognitive impairment in patients with PCDH19 mutations and a Dravet-like phenotype varies in severity, and no sufficient evidence exists that any correlation exists between type of mutation and severity of cognitive impairment and epilepsy [review] PMID: 21504426
Article shows importance of testing PCDH19 in females with early onset epilepsy, intellectual impairment, and autistic features, regardless of family history. PMID: 20830798
This study indicted that PCDH19 is emerging as a major gene for infantile-onset familial or sporadic epilepsy in female patients with or without mental retardation. PMID: 20713952
Using a sample of male subjects diagnosed with autism spectrum disorders, markers were tested covering the entire X chromosome using a family-based association study. Association was revealed at DXS8043 (P=0.0101). PMID: 16261168
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment PMID: 18469813
Mutation of PCDH19 plays a major role in epileptic encephalopathies, mainly affects females. PMID: 19214208

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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.

To learn more about how to properly dissolve the lyophilized recombinant protein, please visit Lyophilization FAQs.