Acetyl-coenzyme A transporter 1 also known as solute carrier family 33 member 1 (SLC33A1) is a protein that in humans is encoded by the SLC33A1 gene.[5]
Function
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.[5]
Clinical significance
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.[5]
Lin, P.; Mao, F.; Liu, Q.; Shao, C.; Yan, C.; Gong, Y. (2010). "Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG42) caused bySLC33A1mutation in a Chinese kindred". Prenatal Diagnosis. 30 (5): 485–486. doi:10.1002/pd.2485. PMID20306460.
Hirabayashi, Y.; Kanamori, A.; Nomura, K. H.; Nomura, K. (2004). "The acetyl-CoA transporter family SLC33". Pfl�gers Archiv European Journal of Physiology. 447 (5): 760–762. doi:10.1007/s00424-003-1071-6. PMID12739170. {{cite journal}}: replacement character in |journal= at position 4 (help)