Aliases: C5orf6
Chromosome No: 5
Chromosome Band: 5q31.2
Genetic Category: Rare single gene variant-Functional
ASD Reports: 5
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 6
Evidence score: 2
| Associated Disorders: |
|
Relevance to Autism
Whole-exome sequencing of 115 ASD trios from three countries with a high frequency of consanguineous populations (Pakistan, Iran, and Saudi Arabia) in Harripaul et al., 2026 identified a de novo frameshift variant in the FAM53C gene (NM_001135647.2:c.256dupT;p.Ser86PhefsTer14) in a male ASD proband from Pakistan. A de novo missense variant in this gene was previously reported in an ASD proband from the MSSNG cohort in Trost et al., 2022. FAM53C has been shown to interact with and inhibit the ASD candidate gene DYRK1A, and FAM53C knockout human cortical organoids have been shown to display increased cell cycle arrest and growth defects (Miyata et al., 2023; Hammond et al., 2026).
Molecular Function
The protein encoded by this gene belongs to the FAM53 protein family. FAM53 protein family members bind to a transcriptional regulator that modulates cell proliferation.
External Links
