Gene
mcph1
- ID
- ZDB-GENE-060421-6122
- Name
- microcephalin 1
- Symbol
- mcph1 Nomenclature History
- Previous Names
-
- zgc:136403
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Human ortholog(s) of this gene implicated in breast cancer; endometrial cancer; microcephaly; primary autosomal recessive microcephaly; and primary autosomal recessive microcephaly 1. Orthologous to human MCPH1 (microcephalin 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- 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 |
|---|---|---|---|
| primary autosomal recessive microcephaly 1 | Alliance | Microcephaly 1, primary, autosomal recessive | 251200 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | BRCT domain | BRCT domain superfamily | Microcephalin-like |
|---|---|---|---|---|
|
UniProtKB:F8W5H6
|
463 | |||
|
UniProtKB:A0A8M2B3G0
|
728 |
Interactions and Pathways
No data available
Plasmids
No data available