Gene: MCM3AP

Alternate names for this Gene: GANP|MAP80|PNRIID|SAC3

Gene Summary: 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.

Gene is located in Chromosome: 21

Location in Chromosome : 21q22.3

Description of this Gene: minichromosome maintenance complex component 3 associated protein

Type of Gene: protein-coding

rs149024257 in MCM3AP gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs373674344 in MCM3AP gene and PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT PMID 29982295 2018 A novel MCM3AP mutation in a Lebanese family with recessive Charcot-Marie-Tooth neuropathy.

PMID 28633435 2017 MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.

PMID 28969388 2017 Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation.

PMID 24123876 2013 Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.

rs9982623 in MCM3AP gene and Periodontitis PMID 30218097 2019 Meta-analysis of genome-wide association studies of aggressive and chronic periodontitis identifies two novel risk loci.

rs9982623 in MCM3AP gene and Periodontosis PMID 30218097 2019 Meta-analysis of genome-wide association studies of aggressive and chronic periodontitis identifies two novel risk loci.

rs2839186 in MCM3AP gene and Testicular Germ Cell Tumor PMID 23666240 2013 Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.

PMID 28604728 2017 Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor.

rs2839186 in MCM3AP gene and Testicular Neoplasms PMID 23666240 2013 Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.