DISEASES

Disease-gene associations mined from literature

Literature associating MCM3AP and Charcot-Marie-Tooth disease

MCM3AP [ENSP00000380820]

Minichromosome maintenance complex component 3 associated protein; Isoform GANP: Essential for the generation of high- affinity B-cells against T-cell-dependent antigens by affecting somatic hypermutation at the IgV-regions. May have stimulation- dependent DNA primase activity that would generate extra RNA primers in very rapidely proliferating cells and would support clonal expansion of differentiating B-cells (By similarity). Involved in the nuclear export of poly(A)-containing mRNAs by acting as a scaffold for the TREX-2 complex. The TREX-2 complex functions in docking export-competent ribonucleoprotein particles (mRNPs) to the nuclear entrance of the nuclear pore complex (nuclear basket). TREX-2 participates in mRNA export and accurate chromatin positioning in the nucleus by tethering genes to the nuclear periphery.

Synonyms:  MCM3AP,  MCM3APp,  hMCM3AP,  B3KWZ4,  MCM3AP_VAR1 ...

Linkouts:  STRING  Pharos  UniProt