Recombinant Human Major Facilitator Superfamily Domain-Containing Protein 8 (MFSD8) Protein (His-GST)

Name: Recombinant Human Major Facilitator Superfamily Domain-Containing Protein 8 (MFSD8) Protein (His-GST)
Brand: Beta LifeScience
SKU: BLC-08183P
Availability: InStock

Greater than 90% as determined by SDS-PAGE.

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Product Overview

Description	Recombinant Human Major Facilitator Superfamily Domain-Containing Protein 8 (MFSD8) Protein (His-GST) is produced by our E.coli expression system. This is a protein fragment.
Purity	Greater than 90% as determined by SDS-PAGE.
Uniprotkb	Q8NHS3
Target Symbol	MFSD8
Synonyms	Ceroid-lipofuscinosis neuronal protein 7; CLN7; Major facilitator superfamily domain-containing protein 8; MFSD8; MFSD8_HUMAN
Species	Homo sapiens (Human)
Expression System	E.coli
Tag	N-6His-GST
Target Protein Sequence	MAGLRNESEQEPLLGDTPGSREWDILETEEHYKSRWRSIR
Expression Range	1-40aa
Protein Length	Partial
Mol. Weight	34.8kDa
Research Area	Others
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	May be a carrier that transport small solutes by using chemiosmotic ion gradients.
Subcellular Location	Lysosome membrane; Multi-pass membrane protein. Note=Sorting to lysosomes involves tyrosine- and/or dileucine-based motifs.
Protein Families	Major facilitator superfamily
Database References	HGNC: 28486 OMIM: 610951 KEGG: hsa:256471 STRING: 9606.ENSP00000296468 UniGene: Hs.480701
Associated Diseases	Ceroid lipofuscinosis, neuronal, 7 (CLN7); Macular dystrophy with central cone involvement (CCMD)
Tissue Specificity	Expressed at very low levels in all tissues tested.

Gene Functions References

This study highlights a hierarchy of MFSD8 variant severity, predicting three consequences of mutation: (1) nonsyndromic localized maculopathy, (2) nonsyndromic widespread retinopathy, or (3) syndromic neurological disease. PMID: 28586915
MFSD8 genetic testing should also be considered in patients with Rett like phenotype at onset and negative MECP2 mutation PMID: 25439737
A mutation in MFSD8, c.472G>A (p.Gly158Ser), segregates with the disease phenotype in variant late infantile neuronal ceroid lipofuscinosis. PMID: 25270050
In this study, we identified variants in MFSD8 as a novel cause of nonsyndromic autosomal recessive macular dystrophy with central cone involvement. PMID: 25227500
This study showed that Gene disruption of Mfsd8 provides animal model for CLN7 disease. PMID: 24423645
Expression and lysosomal targeting of CLN7 are reported. PMID: 20826447
MFSD8 gene is involved in late-infantile-onset neuronal ceroid lipofuscinose;it was mapped to chromosome 4q28.1-q28.2. PMID: 17564970
Results describe a novel mutation in the MFSD8 gene, responsible for neuronal ceroid lipofuscinoses, in a consanguineous Egyptian family PMID: 18850119
Study contributes to a better molecular characterization of Italian NCL cases, and will facilitate medical genetic counseling in such families. PMID: 19177532
CLN7/MFSD8 defects are not restricted to the Turkish population, as initially anticipated, but are a relatively common cause of NCL in different populations. PMID: 19201763
Data show that neuronal ceroid lipofuscinosis in a Saudi family is due to a homozygous novel mutation in the most recently described NCL gene (MFSD8). PMID: 19277732

FAQs

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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.