MCM3AP

Chr 21q22.3

minichromosome maintenance complex component 3 associated protein

Aliases:: Map80, KIAA0572, GANP, SAC3
MANE:: ENST00000291688.6

OMIM: 603294 ↗NCBI: 8888 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

MCM3AP · O60318

v62025-08-01

Predicted Aligned Error matrix for MCM3AP — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

64.9/ 100

Low

1,980 residues

Confidence breakdown

Very high(≥ 90)24%
Confident(70–90)32%
Low(50–70)8%
Very low(< 50)36%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Hereditary neuropathy
BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

peripheral neuropathy, autosomal recessive, with or without impaired intellectual development
0.79
hereditary disease
0.51
autism spectrum disorder
0.33
neurodegenerative disease
0.26
mental disorder
0.24
testicular germ cell tumor
0.21
testicular cancer
0.21
premature birth
0.20
peripheral neuropathy
0.14
congenital fibrosis of extraocular muscles
0.12

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Germinal-center associated nuclear protein

As a component of the TREX-2 complex, involved in the export of mRNAs to the cytoplasm through the nuclear pores (PubMed:20005110, PubMed:20384790, PubMed:22307388, PubMed:23591820). Through the acetylation of histones, affects the assembly of nucleosomes at immunoglobulin variable region genes and promotes the recruitment and positioning of transcription complex to favor DNA cytosine deaminase AICDA/AID targeting, hence promoting somatic hypermutations (PubMed:23652018)