rs119103232
This is a variant in the BTD gene that changes a glycine to an serine.
▶ClinVar annotation
BTD-related disorder; Biotinidase deficiency
View on ClinVar →About BTD
The protein encoded by this gene functions to recycle protein-bound biotin by cleaving biocytin (biotin-epsilon-lysine), a normal product of carboxylase degradation, resulting in regeneration of free biotin. The encoded protein has also been shown to have biotinyl transferase activity. Mutations in this gene are associated with biotinidase deficiency. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Aug 2013]
View all BTD variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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