Predicted to enable 2 iron, 2 sulfur cluster binding activity. Predicted to be involved in regulation of autophagy. Predicted to be located in mitochondrial outer membrane. Expressed in embryonic cell and intestinal cell. Human ortholog(s) of this gene implicated in Wolfram syndrome 2. Is an ortholog of human CISD1 (CDGSH iron sulfur domain 1).
wolfram syndrome 1 (wfs1) encodes an endoplasmic reticulum-resident transmembrane protein. Neuronal knockdown of wfs1 increases susceptibility to age- and stress-induced neuronal dysfunction and degeneration.
The protein encoded by this gene is a zinc finger protein that localizes to the endoplasmic reticulum. The encoded protein binds an iron/sulfur cluster and may be involved in calcium homeostasis. Defects in this gene are a cause of Wolfram syndrome 2. [provided by RefSeq, Mar 2011]
Predicted to enable 2 iron, 2 sulfur cluster binding activity and protein homodimerization activity. Predicted to be involved in autophagy of mitochondrion and regulation of autophagy. Predicted to be located in endoplasmic reticulum membrane and perinuclear endoplasmic reticulum. Predicted to be part of protein-containing complex. Predicted to be active in mitochondrial outer membrane. Human ortholog(s) of this gene implicated in Wolfram syndrome 2. Orthologous to human CISD2 (CDGSH iron sulfur domain 2); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 6-propyl-2-thiouracil; amitrole.
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]
Enables several functions, including calcium-dependent protein binding activity; calmodulin binding activity; and proteasome binding activity. Involved in several processes, including negative regulation of ATF6-mediated unfolded protein response; olfactory behavior; and protein stabilization. Is active in synaptic vesicle membrane. Used to study cataract; diabetes mellitus; and glucose intolerance. Biomarker of post-traumatic stress disorder and visual epilepsy. Human ortholog(s) of this gene implicated in several diseases, including Wolfram syndrome (multiple); auditory system disease (multiple); cataract 41; diabetes mellitus (multiple); and optic atrophy (multiple). Orthologous to human WFS1 (wolframin ER transmembrane glycoprotein); PARTICIPATES IN Endoplasmic Reticulum-associated degradation pathway; INTERACTS WITH 2,2',4,4'-Tetrabromodiphenyl ether; 6-propyl-2-thiouracil; aconitine.