Gene: MCM3AP-AS1

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

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

rs2839168 in MCM3AP-AS1;MCM3AP gene and Lymphocyte Count measurement PMID 22286170 2012 The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes.

rs779630101 in MCM3AP-AS1;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 28969388 2017 Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation.

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

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