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SLC33A1

Official Full Name
solute carrier family 33 member 1
Organism
Homo sapiens
GeneID
9197
Background
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]
Synonyms
AT1; AT-1; ACATN; HPBDS; SPG42; CCHLND;

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