靶标:
SLC33A1
产品别名:
ACATN; AT-1; AT1; CCHLND; SPG42; SLC33A1; solute carrier family 33 member 1; solute carrier family 33 member 1; acetyl-coenzyme A transporter 1; solute carrier family 33 (acetyl-CoA transporter), member 1; 乙酰辅酶A转运蛋白1;
背景信息:
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],