Species Human Entrez 9197 | Human Mouse Ensembl ENSG00000169359 | |
Aliases SLC33A1, ACATN, AT-1, AT1, CCHLND, SPG42, solute carrier family 33 member 1 External IDs MGI: 1332247 HomoloGene: 3476 GeneCards: SLC33A1 | ||
Acetyl-coenzyme A transporter 1 also known as solute carrier family 33 member 1 (SLC33A1) is a protein that in humans is encoded by the SLC33A1 gene.
Contents
Function
The protein encoded by this gene is required for the formation of O-acetylated (Ac) gangliosides. The encoded protein is predicted to contain 6 to 10 transmembrane domains, and a leucine zipper motif in transmembrane domain III.
Clinical significance
Defects in this gene have been reported to cause spastic paraplegia autosomal dominant type 42 (SPG42) in one Chinese family, but not in similar patients of European descent.
References
SLC33A1 Wikipedia(Text) CC BY-SA