MCM3AP

Chr 21AR

minichromosome maintenance complex component 3 associated protein

Also known as: GANP, MAP80, PNRIID, SAC3

NCBI Gene: 8888 ENSG00000160294 UniProt: O60318 OMIM: 603294

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.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

The minichromosome maintenance protein 3 (MCM3) is one of the MCM proteins essential for the initiation of DNA replication. The protein encoded by this gene is a MCM3 binding protein. It was reported to have phosphorylation-dependent DNA-primase activity, which was up-regulated in antigen immunization induced germinal center. This protein was demonstrated to be an acetyltransferase that acetylates MCM3 and plays a role in DNA replication. The mutagenesis of a nuclear localization signal of MCM3 affects the binding of this protein with MCM3, suggesting that this protein may also facilitate MCM3 nuclear localization. This gene is expressed in the brain or in neuronal tissue. An allelic variant encoding amino acid Lys at 915, instead of conserved Glu, has been identified in patients with mild intellectual disability. [provided by RefSeq, Jan 2014]

OMIM ResearchGenerating clinical summary…