Gene
sass6
- ID
- ZDB-GENE-040426-2784
- Name
- SAS-6 centriolar assembly protein
- Symbol
- sass6 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Description
- Involved in several processes, including embryonic cleavage; microtubule cytoskeleton organization; and spermatogenesis. Localizes to centrosome. Human ortholog(s) of this gene implicated in primary autosomal recessive microcephaly 14. Is expressed in blastomere and unfertilized egg. Orthologous to human SASS6 (SAS-6 centriolar assembly protein).
- 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
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
primary autosomal recessive microcephaly 14 | Alliance | Microcephaly 14, primary, autosomal recessive | 616402 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | SAS-6 coiled-coil domain | SAS-6, N-terminal domain superfamily | Spindle assembly abnormal protein 6, N-terminal |
---|---|---|---|---|
UniProtKB:A0A8M3AM46
|
593 | |||
UniProtKB:A0A8M2BL83
|
639 | |||
UniProtKB:B2GRL0
|
627 | |||
UniProtKB:Q7ZVT3
|
627 |
Interactions and Pathways
No data available
Plasmids
No data available