CCT4
Homo sapiens
Gene Name: Chaperonin containing TCP1, subunit 4 (delta)
Aliases: CCT-DELTA, Cctd, SRB
Chromosome No: 2
Chromosome Band: 2p15
Genetic Category: Rare single gene variant-
Aliases: CCT-DELTA, Cctd, SRB
Chromosome No: 2
Chromosome Band: 2p15
Genetic Category: Rare single gene variant-
Summary Statistics:
ASD Reports: 3
Recent Reports: 1
Annotated variants: 2
Associated CNVs: 3
Evidence score: 2
ASD Reports: 3
Recent Reports: 1
Annotated variants: 2
Associated CNVs: 3
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Two de novo missense variants in the CCT4 gene were identified in ASD probands from the Simons Simplex Collection in Iossifov et al., 2014. Krumm et al., 2015 reported that no de novo SNVs in this gene were observed in SSC unaffected siblings (de novo SNV P-value <0.05), and no rare effect types were reported in the Exome Variant Server.
Molecular Function
This gene encodes a molecular chaperone that assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. Known to play a role, in vitro, in the folding of actin and tubulin.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Recent Recommendation
Low load for disruptive mutations in autism genes and their biased transmission.
ASD
