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
- Is predicted to enable cytokine activity and stem cell factor receptor binding activity. Involved in positive regulation of cell population proliferation. Acts upstream of or within melanocyte differentiation. Predicted to be located in several cellular components, including extracellular region; filopodium; and lamellipodium. Predicted to be integral component of membrane. Is expressed in several structures, including digestive system; endocrine system; muscle; neural crest cell; and segmental plate. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 69 and familial progressive hyperpigmentation with or without hypopigmentation. Orthologous to human KITLG (KIT ligand).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 15 figures from 10 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 | Length (nt) | Analysis |
|---|---|---|---|
| mRNA |
kitlga-201
(1)
|
1613 nt | |
| mRNA |
kitlga-202
(1)
|
801 nt |
Interactions and Pathways
Plasmids