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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:0001744 | Splenomegaly |
| HP:0002013 | Vomiting |
| HP:0002014 | Diarrhea |
| HP:0002240 | Hepatomegaly |
| HP:0002506 | Diffuse cerebral atrophy |
| HP:0002789 | Tachypnea |
| HP:0003593 | Infantile onset |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0011463 | Childhood onset |
| HP:0100275 | Diffuse cerebellar atrophy |
| 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 |
|---|---|---|---|
| 686 | Xenbase:XB-GENE-982203 | ||
| 8875 | FB:FBgn0052751 | ||
| 8876 | FB:FBgn0052751 | ||
| 22361 | FB:FBgn0052751 | ||
| 26363 | Xenbase:XB-GENE-982203 | MOUSE13666 | |
| 26464 | FB:FBgn0052751 | ||
| 31551 | Xenbase:XB-GENE-982203 | ||
| 306262 | Xenbase:XB-GENE-982203 | RATNO11332 | |
| 318189 | Xenbase:XB-GENE-982203 | ||
| 326238 | ZFIN:ZDB-GENE-060825-186 |
