Gene: SLC33A1

Alternate names for this Gene: ACATN|AT-1|AT1|CCHLND|SPG42

Gene 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.

Gene is located in Chromosome: 3

Location in Chromosome : 3q25.31

Description of this Gene: solute carrier family 33 member 1

Type of Gene: protein-coding

rs1991545 in SLC33A1 gene and Epilepsies, Partial PMID 30531953 2018 Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies.

rs382534 in SLC33A1 gene and Triglycerides measurement PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

rs112013645 in SLC33A1 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.