MFSD6L is a 586 amino acid multi-pass membrane protein of the MFSD6 family and major facilitator superfamily. The gene encoding MFSD6L maps to human chromosome 17, which contains about 81 million bases and 1,200 genes. Two key tumor suppressor genes are associated with chromosome 17, namely, p53 and BRCA1. Tumor suppressor p53 is necessary for maintenance of cellular genetic integrity by moderating cell fate through DNA repair versus cell death. Malfunction or loss of p53 expression is associated with malignant cell growth and Li-Fraumeni syndrome. Like p53, BRCA1 is directly involved in DNA repair, though it is specifically recognized as a genetic determinant of early onset breast cancer and predisposition to cancers of the ovary, colon, prostate gland and fallopian tubes. Chromosome 17 is also linked to neurofibromatosis, a condition characterized by neural and epidermal lesions, and dysregulated Schwann cell growth.
Subunit:
May interact with HLA-B62.
Subcellular Location:
Membrane
Tissue Specificity:
Widely expressed. Expression levels in peripheral blood mononuclear cells are highly variable between individuals, including no expression at all.
Similarity:
Belongs to the major facilitator superfamily. MFSD6 family.
SWISS:
Q6ZSS7
Gene ID:
54842
Database links:
Entrez Gene: 54842 Human
Omim: 613476 Human
SwissProt: Q6ZSS7 Human
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