SLC33A1 Back

solute carrier family 33 (acetyl-CoA transporter), member 1

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NCBI Description of SLC33A1
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. 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.

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

SLC33A1 is highly significantly mutated in
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SLC33A1 is significantly mutated in
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SLC33A1 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for SLC33A1