GENETIC ENCYCLOPEDIA
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gene: BTD

id686
symbolBTD
organismHomo sapiens
full namebiotinidase
summaryThe 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]
variant-disease

NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) AND Biotinidase deficiency

NM_001370658.1(BTD):c.1270G>C (p.Asp424His) AND Biotinidase deficiency

NM_001370658.1(BTD):c.175C>T (p.Arg59Cys) AND Biotinidase deficiency

NM_001370658.1(BTD):c.1224C>T (p.Tyr408=) AND not specified

NM_001370658.1(BTD):c.1308A>C (p.Gln436His) AND not provided

... 417 more


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