rs80280748
This variant is located in the CSAD gene.
▶ClinVar annotation
Benign★★★☆
2 submitters2 publicationsAbout CSAD
This gene encodes a member of the group 2 decarboxylase family. A similar protein in rodents plays a role in multiple biological processes as the rate-limiting enzyme in taurine biosynthesis, catalyzing the decarboxylation of cysteinesulfinate to hypotaurine. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
View all CSAD variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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