Gene

sass6

ID

ZDB-GENE-040426-2784

Name

SAS-6 centriolar assembly protein

Symbol

sass6 Nomenclature History

Previous Names

sas-6 (1)
cea
cellular atoll
wu:fb98c12 (1)
zgc:55668 (1)

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

Expression

All Expression Data

2 figures from 2 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 4 figures from 2 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With sass6 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
primary autosomal recessive microcephaly 14	Alliance	Microcephaly 14, primary, autosomal recessive	616402

Associated With sass6 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR032396	Spindle assembly abnormal protein 6, N-terminal
Domain	IPR041513	SAS-6 coiled-coil domain
Homologous_superfamily	IPR038558	SAS-6, N-terminal domain superfamily