SLC33A1

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SLC33A1
Identifiers
Aliases SLC33A1, ACATN, AT-1, AT1, CCHLND, SPG42, solute carrier family 33 member 1
External IDs MGI: 1332247 HomoloGene: 3476 GeneCards: SLC33A1
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001190992
NM_004733

NM_001272035
NM_015728
NM_001331067

RefSeq (protein)

NP_001177921
NP_004724

NP_001258964.1
NP_056543.2
NP_001258964
NP_001317996
NP_056543

Location (UCSC) Chr 3: 155.82 – 155.85 Mb Chr 3: 63.93 – 63.96 Mb
PubMed search [1] [2]
Wikidata
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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.[3]

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.[3]

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.[3]

References[edit]

Further reading[edit]

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