| Primary Identifier | MGI:2443327 | Organism | mouse, laboratory |
| Chromosome | 8 | NCBI Gene Number | 338521 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables fatty acid 2-hydroxylase activity. Involved in galactosylceramide biosynthetic process; glucosylceramide biosynthetic process; and plasma membrane raft organization. Acts upstream of or within several processes, including myelin maintenance; regulation of acinar cell proliferation; and sebaceous gland cell differentiation. Located in endoplasmic reticulum. Is expressed in back skin; sebaceous gland; skin; spinal cord; and vibrissa. Used to study hereditary spastic paraplegia 35. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 35. Orthologous to human FA2H (fatty acid 2-hydroxylase). PHENOTYPE: Homozygotes for a null allele show demyelination, axonal loss, and cerebellar dysfunction. Homozygotes for a different null allele show late onset axon and myelin sheath degeneration, delayed fur emergence, altered sebum composition, sebocyte hyperproliferation, and cyclic alopecia. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
