MCC
Homo sapiens
Gene Name: MCC, WNT signaling pathway regulator
Aliases: MCC1
Chromosome No: 5
Chromosome Band: 5q22.2
Genetic Category: Rare single gene variant-Rare single gene variant/multigenic CNV-Functional
Aliases: MCC1
Chromosome No: 5
Chromosome Band: 5q22.2
Genetic Category: Rare single gene variant-Rare single gene variant/multigenic CNV-Functional
Summary Statistics:
ASD Reports: 7
Recent Reports: 0
Annotated variants: 12
Associated CNVs: 7
Evidence score: 2
ASD Reports: 7
Recent Reports: 0
Annotated variants: 12
Associated CNVs: 7
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A rare deletion of the MCC and APC genes was identified in a patient with autism and mental retardation (Barber et al., 1994).
Molecular Function
This gene is a candidate colorectal tumor suppressor gene that is thought to negatively regulate cell cycle progression. The orthologous gene in the mouse expresses a phosphoprotein associated with the plasma membrane and membrane organelles, and overexpression of the mouse protein inhibits entry into S phase. Multiple transcript variants encoding different isoforms have been found for this gene.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Adenomatous polyposis coli and a cytogenetic deletion of chromosome 5 resulting from a maternal intrachromosomal insertion.
ASD
adenomatous polyposis coli
Support
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature.
ID, ASD
Epilepsy
Support
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
ASD
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
