SASS6

SAS-6 centriolar assembly protein
Identifiers
Symbols SASS6 ; MCPH14; SAS-6; SAS6
External IDs OMIM: 609321 MGI: 1920026 HomoloGene: 45668 GeneCards: SASS6 Gene
Orthologs
Species Human Mouse
Entrez 163786 72776
Ensembl ENSG00000156876 ENSMUSG00000027959
UniProt Q6UVJ0 Q80UK7
RefSeq (mRNA) NM_001304829 NM_001289568
RefSeq (protein) NP_001291758 NP_001276497
Location (UCSC) Chr 1:
100.08 – 100.13 Mb
Chr 3:
116.59 – 116.63 Mb
PubMed search

Spindle assembly abnormal protein 6 homolog (SAS-6) is a protein that in humans is encoded by the SASS6 gene.[1][2][3]

Function

SAS-6 is necessary for centrosome duplication and functions during procentriole formation; SAS-6 functions to ensure that each centriole seeds the formation of a single procentriole per cell cycle.[4]

Clinical significance

Mutations in SASS6 are associated to MCPH .[5]

References

  1. "Entrez Gene: spindle assembly 6 homolog (C. elegans)".
  2. Andersen JS, Wilkinson CJ, Mayor T, Mortensen P, Nigg EA, Mann M (December 2003). "Proteomic characterization of the human centrosome by protein correlation profiling". Nature 426 (6966): 570–4. doi:10.1038/nature02166. PMID 14654843.
  3. Leidel S, Delattre M, Cerutti L, Baumer K, Gönczy P (February 2005). "SAS-6 defines a protein family required for centrosome duplication in C. elegans and in human cells". Nat. Cell Biol. 7 (2): 115–25. doi:10.1038/ncb1220. PMID 15665853.
  4. Strnad P, Leidel S, Vinogradova T, Euteneuer U, Khodjakov A, Gönczy P (August 2007). "Regulated HsSAS-6 levels ensure formation of a single procentriole per centriole during the centrosome duplication cycle". Dev. Cell 13 (2): 203–13. doi:10.1016/j.devcel.2007.07.004. PMC 2628752. PMID 17681132.
  5. Khan, M. A.; Rupp, V. M.; Orpinell, M; Hussain, M. S.; Altmüller, J; Steinmetz, M. O.; Enzinger, C; Thiele, H; Höhne, W; Nürnberg, G; Baig, S. M.; Ansar, M; Nürnberg, P; Vincent, J. B.; Speicher, M. R.; Gönczy, P; Windpassinger, C (2014). "A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family". Human Molecular Genetics 23: 5940–9. doi:10.1093/hmg/ddu318. PMID 24951542.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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