| Primary Identifier | MGI:1332247 | Organism | mouse, laboratory |
| Chromosome | 3 | NCBI Gene Number | 11416 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable acetyl-CoA transmembrane transporter activity and protein homodimerization activity. Predicted to be involved in acetyl-CoA transmembrane transport. Predicted to be located in endoplasmic reticulum membrane. Is expressed in several structures, including brain; heart; liver; metanephros; and spleen. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 42. Orthologous to human SLC33A1 (solute carrier family 33 member 1). PHENOTYPE: Mice homozygous for a serine to arginine substitution at amino acid 113 show early embryonic growth arrest. Adult heterozygotes display aberrant inflammatory response, increased propensity to infections and malignancies, degenerative features of the PNS and CNS, and abnormal induction of autophagy. [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
