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SLC33A1
solute carrier family 33 (acetyl-CoA transporter), member 1
SLC33A1 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.
| Gene Name: | solute carrier family 33 (acetyl-CoA transporter), member 1 |
| Family/Subfamily: | Transporter , Acetyl-Coenzyme A Transporter |
| Synonyms: | SLC33A1, ACATN, Acetyl-CoA transporter 1, Acetyl-CoA transporter, CCHLND, Acetyl-Coenzyme A transporter, SPG42, AT-1, AT1 |
| Target Sequences: | NM_004733 NP_004724.1 O00400 |
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