SLC33A1

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Solute carrier family 33 (acetyl-CoA transporter), member 1
Identifiers
Symbols SLC33A1 ; ACATN; AT-1; AT1; CCHLND; SPG42
External IDs OMIM603690 HomoloGene3476 GeneCards: SLC33A1 Gene
Orthologs
Species Human Mouse
Entrez 9197 11416
Ensembl ENSG00000169359 ENSMUSG00000027822
UniProt O00400 Q99J27
RefSeq (mRNA) NM_001190992 NM_001272035
RefSeq (protein) NP_001177921 NP_001258964
Location (UCSC) Chr 3:
155.54 – 155.57 Mb
Chr 3:
63.93 – 63.96 Mb
PubMed search [1] [2]

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.[1]

Function[edit]

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.[1]

Clinical significance[edit]

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.[1]

References[edit]

Further Reading[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.