Primary Identifier | MGI:892970 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 17153 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to be a structural constituent of myelin sheath. Involved in myelination; protein insertion into plasma membrane; and protein localization to paranode region of axon. Acts upstream of or within positive regulation of extrinsic apoptotic signaling pathway via death domain receptors. Is active in hinge region between urothelial plaques of apical plasma membrane and plasma membrane raft. Is expressed in lung; metanephros; and peripheral nervous system. Human ortholog(s) of this gene implicated in metachromatic leukodystrophy. Orthologous to human MAL (mal, T cell differentiation protein). PHENOTYPE: Homozygous null mice display abnormal myelination and optic nerve morphology. [provided by MGI curators] |