Primary Identifier | MGI:2146159 | Organism | mouse, laboratory |
Chromosome | 15 | NCBI Gene Number | 380959 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable dolichyl pyrophosphate Glc2Man9GlcNAc2 alpha-1,2-glucosyltransferase activity. Acts upstream of or within auditory receptor cell development and sensory perception of sound. Predicted to be located in plasma membrane. Predicted to be active in endoplasmic reticulum membrane. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; nose; and respiratory system. Used to study nonsyndromic deafness. Human ortholog(s) of this gene implicated in long QT syndrome 2. Orthologous to human ALG10 (ALG10 alpha-1,2-glucosyltransferase) and ALG10B (ALG10 alpha-1,2-glucosyltransferase B). PHENOTYPE: Mice homozygous for an ENU induced allele exhibit deafness associated with cochlear outer hair cell degeneration. [provided by MGI curators] |