Gene
loxhd1a
- ID
- ZDB-GENE-091112-20
- Name
- lipoxygenase homology PLAT domains 1a
- Symbol
- loxhd1a Nomenclature History
- Previous Names
-
- loxhd1
- si:ch211-14i19.1
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Human ortholog(s) of this gene implicated in Fuchs' endothelial dystrophy; autosomal recessive nonsyndromic deafness 77; and orofacial cleft. Orthologous to human LOXHD1 (lipoxygenase homology PLAT domains 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
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 |
|---|---|---|---|
| autosomal recessive nonsyndromic deafness 77 | Alliance | Deafness, autosomal recessive 77 | 613079 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Inner ear hair cell lipoxygenase homology domain-containing protein | PLAT/LH2 domain | PLAT/LH2 domain superfamily |
|---|---|---|---|---|
|
UniProtKB:A0A8M9PUC9
|
1232 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
loxhd1a-201
(1)
|
Ensembl | 6,367 nt | ||
| mRNA |
loxhd1a-202
(1)
|
Ensembl | 6,354 nt | ||
| mRNA |
loxhd1a-203
(1)
|
Ensembl | 5,982 nt | ||
| mRNA |
loxhd1a-204
(1)
|
Ensembl | 6,054 nt |
Interactions and Pathways
No data available
Plasmids
No data available