SLC33A1

Description

The SLC33A1 (solute carrier family 33 member 1) is a protein-coding gene located on chromosome 3.

SLC33A1 (Solute carrier family 33 member 1) is a human protein encoded by the SLC33A1 gene. It is crucial for the formation of O-acetylated (Ac) gangliosides. The protein contains 6 to 10 transmembrane domains and a leucine zipper motif in transmembrane domain III. Defects in SLC33A1 have been linked to spastic paraplegia autosomal dominant type 42 (SPG42) in one Chinese family, but not in similar patients of European descent.

SLC33A1 mediates active acetyl-CoA import through the endoplasmic reticulum (ER) membrane into the ER lumen. This transport is crucial for the activity of ER-based acetyl-CoA:lysine acetyltransferases, which acetylate ER-based protein substrates like BACE1. SLC33A1 is also necessary for the O-acetylation of gangliosides.

SLC33A1 is also known as ACATN, AT-1, AT1, CCHLND, HPBDS, SPG42.

Associated Diseases

• Autosomal dominant spastic paraplegia type 42
• Congenital cataracts, hearing loss, and neurodegeneration
• Spastic paraplegia 42, autosomal dominant