rs147467519
This variant is located in the SLC33A1 gene.
▶ClinVar annotation
Spastic paraplegia; Inborn genetic diseases
View on ClinVar →About 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. [provided by RefSeq, Jul 2010]
View all SLC33A1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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