Anti-SLC33A1

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. Protein function: Probable acetyl-CoA transporter necessary for O- acetylation of gangliosides (PubMed:9096318). Negatively regulates BMP signaling (PubMed:25402622). [The UniProt Consortium]