Primary Identifier | MGI:1349215 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 11666 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Predicted to enable several functions, including ABC-type fatty-acyl-CoA transporter activity; adenyl ribonucleotide binding activity; and protein dimerization activity. Involved in several processes, including fatty acid metabolic process; negative regulation of biosynthetic process; and positive regulation of fatty acid metabolic process. Located in peroxisomal membrane. Is expressed in several structures, including cranium; genitourinary system; limb; musculature; and respiratory system. Used to study adrenoleukodystrophy. Human ortholog(s) of this gene implicated in adrenoleukodystrophy. Orthologous to human ABCD1 (ATP binding cassette subfamily D member 1). PHENOTYPE: Mice homozygous/hemizygous for disruptions in this gene develop a late onset of neurodegenerative disease (no neurological symptoms up to 6 months of age), with an accumulation of very long chain fatty acids. [provided by MGI curators] |