SASS6 gene

SAS-6 centriolar assembly protein

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Central scaffolding component of the centrioles ensuring their 9-fold symmetry. Required for centrosome biogenesis and duplication: required both for mother-centriole-dependent centriole duplication and deuterosome-dependent centriole amplification in multiciliated cells. Overexpression results in excess foci-bearing centriolar markers. Required for the recruitment of STIL to the procentriole and for STIL-mediated centriole amplification (PubMed:22020124).

From NCBI Gene:

  • Primary autosomal recessive microcephaly 14

From UniProt:

Microcephaly 14, primary, autosomal recessive (MCPH14): A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. [MIM:616402]

Cytogenetic Location: 1p21.2, which is the short (p) arm of chromosome 1 at position 21.2

Molecular Location: base pairs 100,082,632 to 100,133,095 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1p21.2, which is the short (p) arm of chromosome 1 at position 21.2
  • MCPH14
  • SAS-6
  • SAS6