SASS6

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

Spindle assembly abnormal protein 6 homolog (SAS-6) is a protein that in humans is encoded by the SASS6 gene.[5][6][7]

AliasesSASS6, SAS-6, SAS6, MCPH14, SAS-6 centriolar assembly protein
End100,132,955 bp[1]
Quick facts Identifiers, Aliases ...
SASS6
Identifiers
AliasesSASS6, SAS-6, SAS6, MCPH14, SAS-6 centriolar assembly protein
External IDsOMIM: 609321; MGI: 1920026; HomoloGene: 45668; GeneCards: SASS6; OMA:SASS6 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_194292
NM_001304829

NM_001289568
NM_001289571
NM_028349

RefSeq (protein)

NP_001291758
NP_919268

NP_001276497
NP_001276500
NP_082625

Location (UCSC)Chr 1: 100.08 – 100.13 MbChr 3: 116.39 – 116.42 Mb
PubMed search[3][4]
Wikidata
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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.[8]

Clinical significance

Mutations in SASS6 are associated to MCPH.[9]

References

Further reading

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