Gene
abcc6b.1
- ID
- ZDB-GENE-050517-19
- Name
- ATP-binding cassette, sub-family C (CFTR/MRP), member 6b, tandem duplicate 1
- Symbol
- abcc6b.1 Nomenclature History
- Previous Names
-
- abcc6b
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Predicted to have ATPase-coupled transmembrane transporter activity. Predicted to be involved in transmembrane transport. Predicted to localize to membrane. Human ortholog(s) of this gene implicated in arterial calcification of infancy; coronary artery disease; and pseudoxanthoma elasticum. Is expressed in EVL; dermal bone; inner ear; opercular flap; and pronephric proximal straight tubule. Orthologous to human ABCC6 (ATP binding cassette subfamily C member 6).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- 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 |
|---|---|---|---|
| arterial calcification of infancy | Alliance | Arterial calcification, generalized, of infancy, 2 | 614473 |
| pseudoxanthoma elasticum | Alliance | Pseudoxanthoma elasticum | 264800 |
| pseudoxanthoma elasticum | Alliance | Pseudoxanthoma elasticum, forme fruste | 177850 |
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
No data available
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
abcc6b.1-201
(1)
|
Ensembl | 483 nt | ||
| mRNA |
abcc6b.1-202
(1)
|
Ensembl | 3,275 nt |
Interactions and Pathways
No data available
Plasmids
No data available