FAM13A
Chr 4family with sequence similarity 13 member A
Also known as: ARHGAP48, FAM13A1
The FAM13A protein functions as a GTPase activator that regulates small GTPase-mediated signal transduction in the cytosol. This gene is extremely intolerant to loss-of-function mutations and has been implicated in chronic obstructive pulmonary disease, though specific pediatric neurogenetic disorders caused by FAM13A mutations are not established in the provided data. The inheritance pattern for FAM13A-related conditions has not been determined from the available information.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
FAM13A · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools