BTD Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | BTD |
| Official Name | biotinidase [Source:HGNC Symbol;Acc:HGNC:1122] |
| Ensembl ID | ENSG00000169814 |
| Bio databases IDs | |
| Aliases | biotinidase, biotinase |
| Synonyms | biotinidase, LOC100909909 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human BTD often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Vanin C-terminal domain
- nitrilase
- biotinidase
- enzyme
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- diarrhea
- non-insulin-dependent diabetes mellitus
- psoriasis
- biotinidase deficiency
- major depression
- weight loss
- metabolic syndrome X
- hereditary disorder
- gait disturbance
- diverticular disease
regulated by
- fingolimod phosphate
- lipopolysaccharide
- methylselenic acid
regulates
- biotin
- ammonia
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- apical compartment
- mitochondrial matrix
- nucleoli
- perikaryon
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human BTD gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- central nervous system development
- biotin metabolic process
Cellular Component
Where in the cell the gene product is active
- extracellular space
- extracellular vesicular exosome
- mitochondrial matrix
- extracellular region
Molecular Function
What the gene product does at the molecular level
- biotinidase activity