Aliases for SLC33A1 Gene
External Ids for SLC33A1 Gene
Previous HGNC Symbols for SLC33A1 Gene
Previous GeneCards Identifiers for SLC33A1 Gene
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]
GeneCards Summary for SLC33A1 Gene
SLC33A1 (Solute Carrier Family 33 Member 1) is a Protein Coding gene. Diseases associated with SLC33A1 include Spastic Paraplegia 42, Autosomal Dominant and Congenital Cataracts, Hearing Loss, And Neurodegeneration. Among its related pathways are Glycosphingolipid biosynthesis - ganglio series and Metabolism. Gene Ontology (GO) annotations related to this gene include solute:proton symporter activity and acetyl-CoA transmembrane transporter activity.
UniProtKB/Swiss-Prot for SLC33A1 Gene
Probable acetyl-CoA transporter necessary for O-acetylation of gangliosides (PubMed:9096318). Negatively regulates BMP signaling (PubMed:25402622).