MCM4
Homo sapiens
Gene Name: minichromosome maintenance complex component 4
Aliases: CDC21, CDC54, NKCD, NKGCD, P1-CDC21, hCdc21
Chromosome No: 8
Chromosome Band: 8q11.21
Genetic Category: Rare single gene variant-
Aliases: CDC21, CDC54, NKCD, NKGCD, P1-CDC21, hCdc21
Chromosome No: 8
Chromosome Band: 8q11.21
Genetic Category: Rare single gene variant-
Summary Statistics:
ASD Reports: 4
Recent Reports: 1
Annotated variants: 4
Associated CNVs: 12
Evidence score: 2
ASD Reports: 4
Recent Reports: 1
Annotated variants: 4
Associated CNVs: 12
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Two de novo variants (a missense variant and a synonymous variant predicted in PMID 26938441 to affect splicing regulation by altering an exonic splicing regulator) were observed in the MCM4 gene in ASD probands (Fromer et al., 2014). Evaluation of the statistical significance of observing multiple functional de novo variants in this gene, taking into account gene length and local sequence context to determine the expected number of variants, generated a p-value of 2.21E-03 (Takata et al., 2016).
Molecular Function
The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Recent Recommendation
De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia.
