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biotinidase
Summary
- Gene Symbol
-
- BTD
- Aliases
-
- biotinase
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Alternative splicing
- Direct protein sequencing
- Disease variant
- Glycoprotein
- Hydrolase
- Reference proteome
- Secreted
- Signal
- Proteins
| UniProt | Protein Name |
|---|---|
| P43251 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| biotin metabolic process | ||
| central nervous system development |
| GO Term | Evidence Code | PMID |
|---|---|---|
| extracellular space | ||
| extracellular region | ||
| mitochondrial matrix | ||
| extracellular exosome |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| biotinidase activity | ||
| protein binding |
GO Hierarchy
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:856 | biotinidase deficiency |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000365 | Hearing impairment |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000478 | Abnormality of the eye |
| HP:0000509 | Conjunctivitis |
| HP:0000575 | Scotoma |
| HP:0000648 | Optic atrophy |
| HP:0000707 | Abnormality of the nervous system |
| HP:0000964 | Eczematoid dermatitis |
| HP:0000988 | Skin rash |
| HP:0001138 | Optic neuropathy |
| Disease ID | Disease Name |
|---|---|
| ORPHA:79241 |
|
| OMIM:253260 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP002863
- Gene Name
- biotinidase
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 100409568 | CALJA15073 | ||
| 100458389 | PONAB26099 | ||
| 100483327 | AILME16740 | ||
| 100540232 | MELGA11635 | ||
| 100556978 | ANOCA08157 | ||
| 100723421 | CAVPO00415 | ||
| 100737057 | PIGXX03604 | ||
| 100755324 | CRIGR00532 | ||
| 100922840 | SARHA14452 | ||
| 100943917 | OTOGA18760 |
