SASS6
Sign in to saveAlso known as SAS-6, SAS6, MCPH14, SAS-6 centriolar assembly protein
Spindle assembly abnormal protein 6 homolog (SAS-6) is a protein that in humans is encoded by the SASS6 gene.
Gene data
SASS6- Name
- SAS-6 centriolar assembly protein
- Type
- protein-coding
- Aliases
- MCPH14, SAS-6, SAS6
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].
via MyGene.info
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 45668
- exact match
- identifiers.org/ncbigene/163786
- genomic end
- 100598511
- genomic start
- 100549119
- cytogenetic location
- 1p21.2
Sources (4)
via Wikidata · CC0
~1 min read
Article
4 sectionsContents
- Function
- Clinical significance
- References
- Further reading
Spindle assembly abnormal protein 6 homolog (SAS-6) is a protein that in humans is encoded by the SASS6 gene.
== Function ==
Connections
Q180686
Entity
human chromosome 1
Entity
Ensembl genome database project
Entity
protein
Entity
Wikidata
Entity
gene
Entity
chromosome
Entity
public domain
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digital object identifier
Entity
bibcode
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centriole
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cell cycle
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human genome
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Q229883
Entity
base pair
Entity
locus
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centrosome
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gene expression
Entity
Online Mendelian Inheritance in Man
Entity
microcephaly
Entity