Gene
cryaba
- ID
- ZDB-GENE-991119-2
- Name
- crystallin, alpha B, a
- Symbol
- cryaba Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Exhibits unfolded protein binding activity. Involved in several processes, including heart contraction; myofibril assembly; and skeletal muscle tissue development. Localizes to plasma membrane. Human ortholog(s) of this gene implicated in cataract 16 multiple types; dilated cardiomyopathy 1II; fatal infantile hypertonic myofibrillar myopathy; and myofibrillar myopathy 2. Is expressed in several structures, including eye; heart; otic vesicle; presumptive neural retina; and solid lens vesicle. Orthologous to human CRYAB (crystallin alpha B).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 20 figures from 13 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 |
|---|---|---|---|
| cataract 16 multiple types | Alliance | Cataract 16, multiple types | 613763 |
| dilated cardiomyopathy 1II | Alliance | Cardiomyopathy, dilated, 1II | 615184 |
| fatal infantile hypertonic myofibrillar myopathy | Alliance | Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related | 613869 |
| myofibrillar myopathy 2 | Alliance | Myopathy, myofibrillar, 2 | 608810 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Alpha crystallin/Hsp20 domain | Alpha-crystallin, N-terminal | Alpha crystallin/Small heat shock protein, animal type | HSP20-like chaperone |
|---|---|---|---|---|---|
|
UniProtKB:Q9PUR2
|
168 |
| Type | Name | Annotation Method | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
cryaba-201
(1)
|
Havana | 1335 nt |
Interactions and Pathways
No data available
Plasmids