Official Full Name
solute carrier family 33 (acetyl-CoA transporter), member 1
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.
SLC33A1; solute carrier family 33 (acetyl-CoA transporter), member 1; ACATN, acetyl Coenzyme A transporter , spastic paraplegia 42 (autosomal dominant) , SPG42; acetyl-coenzyme A transporter 1; AT 1; AT1; ACATN; Acetyl CoA transporter; Acetyl Coenzyme A transporter; Acetyl coenzyme A transporter 1; Human Angiotensin II Type 1 Receptor; Solute carrier family 33 (acetyl CoA transporter) member 1; Solute carrier family 33 member 1; spastic paraplegia 42 (autosomal dominant); SPG42; OTTHUMP00000212981; OTTHUMP00000212982; OTTHUMP00000212983; AT-1; CCHLND; zgc:63693