SASS6 SAS-6 centriolar assembly protein [ Homo sapiens (human) ] - Gene - Data resources

163786

SASS6 SAS-6 centriolar assembly protein [ Homo sapiens (human) ]
Source: NCBI Gene (ID 163786)

Symbol: SASS6

Full name: SAS-6 centriolar assembly protein

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: MCPH14; SAS-6; SAS6

Summary: The protein encoded by this gene is a central component of centrioles and is necessary for their duplication and function. Centrioles adopt a cartwheel-shaped structure, with the encoded protein forming the hub and spokes inside a microtubule cylinder. Defects in this gene are a cause of autosomal recessive primary microcephaly. [provided by RefSeq, Oct 2016]

Expression: Ubiquitous expression in bone marrow (RPKM 6.8), testis (RPKM 6.7) and 25 other tissues

Orthologs: mouse

Gene size: 49361bp

Exon count: 19