BTD

Chr 3

biotinidase

NCBI Gene: 686 ENSG00000169814 UniProt: P43251

Biotinidase recycles protein-bound biotin by cleaving biocytin to regenerate free biotin and also functions as a biotinyl transferase. Mutations cause biotinidase deficiency, an autosomal recessive disorder that impairs biotin recycling and can lead to metabolic dysfunction. Loss-of-function mutations result in reduced enzyme activity, preventing adequate biotin availability for essential carboxylase enzymes.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtBiotinidase deficiency

Clinical highlights

Gene-disease validity (ClinGen)

Leigh syndrome · ARModerateconsider for supplementary testing2 gene-disease associations curated in total

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

122

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.30

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)