Automated description from the Alliance of Genome Resources (Release 7.5.0)
Enables ATPase binding activity. Involved in several processes, including negative regulation of apoptotic process; protein stabilization; and regulation of protein metabolic process. Located in endoplasmic reticulum. Is expressed in several structures, including brain; craniocervical region bone; diaphragm; stomach; and vertebral axis musculature. Used to study Wolfram syndrome 1 and nonsyndromic deafness. 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).
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