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MCM3AP

Synonyms
GANP, MAP80, PNRIID, SAC3
External resources
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.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
12
Likely pathogenic
1
VUS
5,582
Likely benign
1,736
Benign
112

Patient Phenotypes

Proportions of phenotypes among 13 patients carrying pathogenic or likely pathogenic variants on MCM3AP gene are displayed below. The following symptoms were found in patients with a variant in MCM3AP. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
69.2%
Abnormality of the musculoskeletal system
38.5%
Abnormality of head or neck
30.8%
Abnormality of metabolism homeostasis
23.1%
Abnormality of the digestive system
23.1%
Constitutional symptom
15.4%
Abnormal cellular phenotype
7.7%
Abnormality of blood and blood forming tissues
7.7%
Abnormality of limbs
7.7%
Abnormality of the cardiovascular system
7.7%
Abnormality of the ear
7.7%
Abnormality of the eye
7.7%
Abnormality of the genitourinary system
7.7%
Abnormality of the immune system
7.7%
Abnormality of the integument
7.7%
Abnormality of the respiratory system
7.7%
Abnormality of the voice
7.7%
Growth abnormality
7.7%
Neoplasm
7.7%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%

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