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].
Pehar, Jonas, Hare, Puglielli: "SLC33A1/AT-1 protein regulates the induction of autophagy downstream of IRE1/XBP1 pathway." in: The Journal of biological chemistry, Vol. 287, Issue 35, pp. 29921-30, (2012) (PubMed).
Jonas, Pehar, Puglielli: "AT-1 is the ER membrane acetyl-CoA transporter and is essential for cell viability." in: Journal of cell science, Vol. 123, Issue Pt 19, pp. 3378-88, (2010) (PubMed).
Aliases for SLC33A1 抗体
solute carrier family 33 (acetyl-CoA transporter), member 1 (slc33a1) 抗体 solute carrier family 33 member 1 (SLC33A1) 抗体 solute carrier family 33 (acetyl-CoA transporter), member 1 (Slc33a1) 抗体 solute carrier family 33 member 1 (Slc33a1) 抗体 ACATN 抗体 Acatn 抗体 AI315656 抗体 AI788741 抗体 AT-1 抗体 AT1 抗体 CCHLND 抗体 D630022N01Rik 抗体 SPG42 抗体 zgc:63693 抗体