Gene
kitlga
- ID
- ZDB-GENE-070424-1
- Name
- kit ligand a
- Symbol
- kitlga Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Description
- Predicted to have cytokine activity and stem cell factor receptor binding activity. Involved in melanocyte differentiation. Predicted to localize to plasma membrane. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 69 and familial progressive hyperpigmentation with or without hypopigmentation. Is expressed in several structures, including endocrine system; gut; integument; neural crest cell; and segmental plate. Orthologous to human KITLG (KIT ligand).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 16 figures from 11 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant nonsyndromic deafness 69 | Alliance | Deafness, autosomal dominant 69, unilateral or asymmetric | 616697 |
| familial progressive hyperpigmentation with or without hypopigmentation | Alliance | Hyperpigmentation with or without hypopigmentation | 145250 |
| Waardenburg syndrome, type 2F | 619947 | ||
| [Skin/hair/eye pigmentation 7, blond/brown hair] | 611664 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Four-helical cytokine-like, core | Stem cell factor |
|---|---|---|---|
|
UniProtKB:Q56JH6
|
272 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
kitlga-201
(1)
|
Ensembl | 1,613 nt | ||
| mRNA |
kitlga-202
(1)
|
Ensembl | 801 nt | ||
| mRNA |
kitlga-203
(1)
|
Ensembl | 819 nt |
Interactions and Pathways
Plasmids