Disease-gene associations mined from literature

Literature associating SASS6 and primary autosomal recessive microcephaly 3

SASS6 [ENSP00000287482]

Spindle assembly abnormal protein 6 homolog; 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.

Synonyms:  SASS6,  SASS6p,  hSASS6,  B4DYM7,  F5GXY5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM