Description
Product Characteristics:
Probable acetyl-CoA transporter necessary for O-acetylation of gangliosides (PubMed:9096318). Negatively regulates BMP signaling (PubMed:25402622).
Subcellular location: Cytoplasm, Cell membrane
Synonyms: AT1, AT-1, ACATN, SPG42, CCHLND, Acetyl-coenzyme A transporter 1, Acetyl-CoA transporter 1, Solute carrier family 33 member 1, SLC33A1
Target Information: 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. 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. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010]