Gene
cln6a
- ID
- ZDB-GENE-041010-57
- Name
- CLN6 transmembrane ER protein a
- Symbol
- cln6a Nomenclature History
- Previous Names
-
- cln6
- zgc:103565
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to be involved in lysosome organization. Predicted to localize to endoplasmic reticulum. Human ortholog(s) of this gene implicated in neuronal ceroid lipofuscinosis; neuronal ceroid lipofuscinosis 4A; and neuronal ceroid lipofuscinosis 6. Orthologous to human CLN6 (CLN6 transmembrane ER protein).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:103565 (1 image)
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 |
|---|---|---|---|
| neuronal ceroid lipofuscinosis 6A | Alliance | Ceroid lipofuscinosis, neuronal, 6A | 601780 |
| neuronal ceroid lipofuscinosis 6B | Alliance | Ceroid lipofuscinosis, neuronal, 6B (Kufs type) | 204300 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR029255 | Ceroid-lipofuscinosis neuronal protein 6 |
Domain Details Per Protein
| Protein | Length | Ceroid-lipofuscinosis neuronal protein 6 |
|---|---|---|
|
UniProtKB:Q5XJ78
|
298 | |
|
UniProtKB:A0A8M2BGW5
|
299 |
Interactions and Pathways
No data available
Plasmids
No data available