WFS1
LOCUS ID7466
GENE_SYMBOLWFS1
GENE NAMEWolfram syndrome 1 (wolframin)
SYNONYMNSWFS, WFRS, WFSL, CTRCT41
CHROMOSOME4
HOMOLOGENE ID4380
microRNAsNANA
GENE SUMMARY
This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. Our findings suggest a shared genetic risk for type 2 diabetes and its kidney complications, and a potential role for WFS1 in early-onset diabetic nephropathy in American Indian populations.22513821