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MEN1 menin 1

Gene ID: 4221, updated on 21-Mar-2023
Gene type: protein coding
Also known as: MEAI; SCG2

Summary

This gene encodes menin, a tumor suppressor associated with a syndrome known as multiple endocrine neoplasia type 1. Menin is a scaffold protein that functions in histone modification and epigenetic gene regulation. It is thought to regulate several pathways and processes by altering chromatin structure through the modification of histones. [provided by RefSeq, May 2019]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele.
GeneReviews: Not available
Multiple endocrine neoplasia, type 1See labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2022-01-12)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2022-01-12)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
11q13.1
Sequence:
Chromosome: 11; NC_000011.10 (64803516..64811294, complement)
Total number of exons:
13

Links

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