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SLC33A1

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Identifiers
SymbolsSLC33A1 ; ACATN; AT-1; AT1; CCHLND; SPG42
External IDsOMIM603690 HomoloGene3476 IUPHAR: 1134 GeneCards: SLC33A1 Gene
Orthologs
SpeciesHumanMouse
Entrez919711416
EnsemblENSG00000169359ENSMUSG00000027822
UniProtO00400Q99J27
RefSeq (mRNA)NM_001190992NM_001272035
RefSeq (protein)NP_001177921NP_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

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

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

Further Reading

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