MCM3AP Chromosome 21

Minichromosome maintenance complex component 3 associated protein
104 variants 104 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
"Lysine acetyltransferases|Transcription and export complex 2"
Locus Type
gene with protein product
Location
21q22.3
Ensembl
ENSG00000160294
Associated Conditions (10)
Autism spectrum disorder
Inborn genetic diseases
Peripheral neuropathy
autosomal recessive
with or without impaired intellectual development
Malignant tumor of urinary bladder
MCM3AP-related disorder
Colon adenocarcinoma
Gastric cancer
Familial cancer of breast
Key Variants
All Variants (104)
RSID Category Clinical Significance Conditions
RS2517439683 Health Risk Pathogenic/Likely pathogenic
RS763090302 Health Risk Pathogenic/Likely pathogenic
RS775414084 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS779248881 Health Risk Pathogenic/Likely pathogenic Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development
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