SASS6

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SASS6
Identifiers
Aliases SASS6, SAS-6, SAS6, MCPH14, SAS-6 centriolar assembly protein
External IDs MGI: 1920026 HomoloGene: 45668 GeneCards: SASS6
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_194292
NM_001304829

NM_001289568
NM_001289571
NM_028349

RefSeq (protein)

NP_001291758
NP_919268

Location (UCSC) Chr 1: 100.08 – 100.13 Mb Chr 3: 116.59 – 116.63 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Spindle assembly abnormal protein 6 homolog (SAS-6) is a protein that in humans is encoded by the SASS6 gene.[3][4][5]

Function[edit]

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.[6]

Clinical significance[edit]

Mutations in SASS6 are associated to MCPH .[7]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ "Entrez Gene: spindle assembly 6 homolog (C. elegans)". 
  4. ^ 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. 
  5. ^ 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. 
  6. ^ 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 2628752Freely accessible. PMID 17681132. 
  7. ^ 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[edit]

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