Primary Identifier | MGI:3037816 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 228094 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables sphingolipid binding activity. Acts upstream of or within sphingolipid biosynthetic process. Located in several cellular components, including perinuclear region of cytoplasm; photoreceptor inner segment; and photoreceptor outer segment. Is expressed in eye and optic nerve. Used to study retinitis pigmentosa 26. Human ortholog(s) of this gene implicated in retinitis pigmentosa and retinitis pigmentosa 26. Orthologous to human CERKL (CERK like autophagy regulator). PHENOTYPE: Mice homozygous for a hypomorphic allele exhibit retinal apoptosis and decreased amplitudes and increased implicit time of oscillatory potentials. [provided by MGI curators] |