Gene
hsd17b10
- ID
- ZDB-GENE-041010-201
- Name
- hydroxysteroid (17-beta) dehydrogenase 10
- Symbol
- hsd17b10 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to have oxidoreductase activity. Human ortholog(s) of this gene implicated in non-syndromic X-linked intellectual disability; pheochromocytoma; and syndromic X-linked intellectual disability type 10. Is expressed in central nervous system; endoderm; head; immature eye; and paraxial mesoderm. Orthologous to human HSD17B10 (hydroxysteroid 17-beta dehydrogenase 10).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:6899159 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| syndromic X-linked intellectual disability type 10 | Alliance | HSD10 mitochondrial disease | 300438 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | NAD(P)-binding domain superfamily | Short-chain dehydrogenase/reductase, conserved site | Short-chain dehydrogenase/reductase SDR |
|---|---|---|---|---|
|
UniProtKB:Q5XJS8
|
260 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
hsd17b10-201
(1)
|
Ensembl | 1,254 nt |
Interactions and Pathways
No data available
Plasmids
No data available