Gene
abcc8
- ID
- ZDB-GENE-050517-22
- Name
- ATP-binding cassette, sub-family C (CFTR/MRP), member 8
- Symbol
- abcc8 Nomenclature History
- Previous Names
-
- zSur1 (1)
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Description
- Predicted to enable ATPase-coupled transmembrane transporter activity. Predicted to be involved in transmembrane transport. Predicted to act upstream of or within potassium ion transport. Predicted to be active in membrane. Is expressed in diencephalon; forebrain; hindbrain; and midbrain. Human ortholog(s) of this gene implicated in familial hyperinsulinemic hypoglycemia 1; glucose metabolism disease (multiple); hypertension; and leucine-sensitive hypoglycemia of infancy. Orthologous to human ABCC8 (ATP binding cassette subfamily C member 8).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 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 |
|---|---|---|---|
| familial hyperinsulinemic hypoglycemia 1 | Alliance | Hyperinsulinemic hypoglycemia, familial, 1 | 256450 |
| leucine-sensitive hypoglycemia of infancy | Alliance | Hypoglycemia of infancy, leucine-sensitive | 240800 |
| transient neonatal diabetes mellitus | Alliance | Diabetes mellitus, transient neonatal 2 | 610374 |
| type 2 diabetes mellitus | Alliance | Diabetes mellitus, noninsulin-dependent | 125853 |
| Diabetes mellitus, permanent neonatal 3, with or without neurologic features | 618857 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| hyperinsulinemic hypoglycemia | abcc8sa15863/sa15863 | standard conditions | Juliana et al., 2024 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR017871 | ABC transporter-like, conserved site |
| Domain | IPR003439 | ABC transporter-like, ATP-binding domain |
| Domain | IPR003593 | AAA+ ATPase domain |
| Domain | IPR011527 | ABC transporter type 1, transmembrane domain |
| Family | IPR000388 | ATP-binding cassette sub-family C member 8/9 |
| Family | IPR000844 | ATP-binding cassette subfamily C member 8 |
| Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
| Homologous_superfamily | IPR036640 | ABC transporter type 1, transmembrane domain superfamily |
Domain Details Per Protein
| Protein | Length | AAA+ ATPase domain | ABC transporter-like, ATP-binding domain | ABC transporter-like, conserved site | ABC transporter type 1, transmembrane domain | ABC transporter type 1, transmembrane domain superfamily | ATP-binding cassette subfamily C member 8 | ATP-binding cassette sub-family C member 8/9 | P-loop containing nucleoside triphosphate hydrolase |
|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M1NTE0
|
1581 | ||||||||
|
UniProtKB:F1QMZ9
|
1594 | ||||||||
|
UniProtKB:A0A8M9PUX9
|
781 | ||||||||
|
UniProtKB:A0A8M3AP51
|
1534 |
Interactions and Pathways
No data available
Plasmids
No data available