MCM3AP
Chr 21ARminichromosome maintenance complex component 3 associated protein
Also known as: GANP, MAP80, PNRIID, SAC3
The protein encoded by MCM3AP functions as an acetyltransferase that acetylates histones and MCM3, playing roles in DNA replication and mRNA export to the cytoplasm as part of the TREX-2 complex. Mutations cause autosomal recessive peripheral neuropathy with or without impaired intellectual development. This gene is highly constrained against loss-of-function variants and is expressed in brain and neuronal tissues.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MCM3AP · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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