SLC33A1, Official Symbol SLC33A1provided by HGNC Official Full Name solute carrier family 33 member 1provided by HGNC Primary source HGNC:HGNC:95 See related Ensembl:ENSG00000169359 MIM:603690; AllianceGenome:HGNC:95 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AT1; AT-1; ACATN; SPG42; CCHLND Summary 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] Expression Ubiquitous expression in thyroid (RPKM 20.1), duodenum (RPKM 13.3) and 25 other tissues See more Orthologs mouse all