Gene: SASS6

Alternate names for this Gene: MCPH14|SAS-6|SAS6

Gene 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1p21.2

Description of this Gene: SAS-6 centriolar assembly protein

Type of Gene: protein-coding

rs1193888919 in SASS6 gene and Dysmorphic features PMID 24951542 2014 A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.

PMID 21273447 2011 Structures of SAS-6 suggest its organization in centrioles.

PMID 21277013 2011 Structural basis of the 9-fold symmetry of centrioles.

PMID 25548773 2014 Molecular and cellular basis of autosomal recessive primary microcephaly.

rs876661307 in SASS6 gene and MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE PMID 24951542 2014 A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.