Gene Function

As a component of the TREX-2 complex, involved in the export of mRNAs to the cytoplasm through the nuclear pores. 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 Source: UniProt

Relationship to CMT

Unclassified AR
1 subtype
21q22.3

First described 2017

Subtype	Inheritance	Class	OMIM	Sentinel Publication
SubtypeCMT-MCM3AP	Inheritanceautosomal recessive	ClassUnclassified Subtypes	OMIM618124	Sentinel Publication MCM3AP in Recessive Charcot-Marie-Tooth Neuropathy and Mild Intellectual Disability 2017 · 10.1093/brain/awx138

Stored Identifiers

No HGNC Aliases

hgnc_idHGNC:6946

ensembl_gene_idENSG00000160294

coords_grch38chr21:46232689-46286617

coords_grch37chr21:47655047-47706211

entrez_id8888

omim_gene603294

uniprot_idsO60318

refseq_accessionNM_003906

mane_refseqNM_003906.5

mane_ensemblENST00000291688.6

External recordsHGNC:6946OMIM 603294gnomADUniProt O60318ClinGenClinVar P/LPMANE NM_003906.5

EvidenceClinGen Definitive peripheral neuropathy, autosomal recessive, with or without impaired intellectual developmentPanelApp Green

ClinVar Variants

Pathogenic and likely pathogenic variants in MCM3AP, as classified in ClinVar, are read live from NCBI. Only aggregate germline records are shown. Uncertain and conflicting classifications are not. Experts in CMT makes no claim to the accuracy of ClinVar data. This index is provided for informational purposes only.

Review stars are ClinVar’s measure of how well a classification is supported: four for a practice guideline, three for an expert panel review, two for agreement among multiple submitters, one for a single submitter with criteria provided, and none where no criteria were provided.

Reported in CMT

Reported in Other Diseases

Reported in a disease other than CMT. Listed apart rather than counted as CMT variants.

Variants w/o a Recorded Disease

Pathogenic or likely pathogenic in ClinVar, submitted without a disease recorded.

The Dorsal Root

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Evidence failed not because it was wrong, but because it was weaponized. I lived the downstream effects of that failure for more than a decade. This is what happens when medicine forgets that data always ends in a human being.

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