Primary Identifier | MGI:99606 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 11305 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including ATP binding activity; ceramide floppase activity; and endopeptidase regulator activity. Involved in several processes, including regulation of intracellular cholesterol transport; regulation of protein localization; and sphingolipid metabolic process. Acts upstream of or within central nervous system myelin formation. Located in lysosomal membrane. Is expressed in brain; retina; and spinal cord. Orthologous to human ABCA2 (ATP binding cassette subfamily A member 2). PHENOTYPE: Null mice show tremors, hyperactivity, abnormal coordination, and alterations in CNS myelin sheath ultrastructure, [provided by MGI curators] |