MCM3AP Chromosome 21
Minichromosome maintenance complex component 3 associated protein
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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
RS2081390223
association
Autism spectrum disorder, Autism spectrum disorder
Health Risk
RS1157808305
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1347400457
Conflicting classifications of pathogenicity
Health Risk
RS1399310620
Conflicting classifications of pathogenicity
Health Risk
RS141089827
Conflicting classifications of pathogenicity
Health Risk
RS142054590
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142223686
Conflicting classifications of pathogenicity
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development
Health Risk
RS142784252
Conflicting classifications of pathogenicity
Malignant tumor of urinary bladder, Inborn genetic diseases, Malignant tumor of urinary bladder
Health Risk
RS144151494
Conflicting classifications of pathogenicity
Health Risk
RS148351300
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149326194
Conflicting classifications of pathogenicity
Inborn genetic diseases, MCM3AP-related disorder, Inborn genetic diseases
Health Risk
RS149627512
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (104)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1569072024 | Health Risk | Pathogenic | Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development |
| RS1569073058 | Health Risk | Pathogenic | Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development |
| RS1569074977 | Health Risk | Pathogenic | Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development |
| RS1569074992 | Health Risk | Pathogenic | Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development |
| RS1569085428 | Health Risk | Pathogenic | — |
| RS1569086477 | Health Risk | Pathogenic | Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development |
| RS2081095830 | Health Risk | Pathogenic | — |
| RS2081122042 | Health Risk | Pathogenic | — |
| RS2081198536 | Health Risk | Pathogenic | — |
| RS2081272792 | Health Risk | Pathogenic | — |
| RS2081272915 | Health Risk | Pathogenic | — |
| RS2081312935 | Health Risk | Pathogenic | — |
| RS2081369871 | Health Risk | Pathogenic | — |
| RS2123827619 | Health Risk | Pathogenic | — |
| RS2123834953 | Health Risk | Pathogenic | — |
| RS2123851661 | Health Risk | Pathogenic | Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development |
| RS2145663057 | Health Risk | Pathogenic | — |
| RS2145664555 | Health Risk | Pathogenic | — |
| RS2145689814 | Health Risk | Pathogenic | — |
| RS2145724454 | Health Risk | Pathogenic | — |
| RS2517296065 | Health Risk | Pathogenic | — |
| RS2517305221 | Health Risk | Pathogenic | — |
| RS2517320038 | Health Risk | Pathogenic | — |
| RS2517325512 | Health Risk | Pathogenic | — |
| RS2517328173 | Health Risk | Pathogenic | — |
| RS2517354241 | Health Risk | Pathogenic | — |
| RS2517386716 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2517389781 | Health Risk | Pathogenic | — |
| RS2517401659 | Health Risk | Pathogenic | — |
| RS2517418480 | Health Risk | Pathogenic | — |
| RS2517435640 | Health Risk | Pathogenic | — |
| RS2517437278 | Health Risk | Pathogenic | — |
| RS2517437634 | Health Risk | Pathogenic | — |
| RS2517438116 | Health Risk | Pathogenic | — |
| RS2517438242 | Health Risk | Pathogenic | — |
| RS2517438518 | Health Risk | Pathogenic | Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development |
| RS2517439109 | Health Risk | Pathogenic | — |
| RS2517439367 | Health Risk | Pathogenic | Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development |
| RS373674344 | Health Risk | Pathogenic | Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development |
| RS483352869 | Health Risk | Pathogenic | Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development |
| RS750916198 | Health Risk | Pathogenic | — |
| RS756431692 | Health Risk | Pathogenic | Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development |
| RS765548056 | Health Risk | Pathogenic | — |
| RS766968609 | Health Risk | Pathogenic | — |
| RS768746412 | Health Risk | Pathogenic | — |
| RS769178368 | Health Risk | Pathogenic | — |
| RS776926615 | Health Risk | Pathogenic | — |
| RS778126344 | Health Risk | Pathogenic | — |
| RS781445345 | Health Risk | Pathogenic | — |
| RS891776856 | Health Risk | Pathogenic | — |