MEN1 menin 1
Gene ID: 4221, updated on 22-Apr-2024Gene type: protein coding
Also known as: MEAI; SCG2
- See all available tests in GTR for this gene
- Go to complete Gene record for MEN1
- Go to Variation Viewer for MEN1 variants
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
| Description | Tests |
|---|---|
| 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 1 | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2022-01-12) ClinGen Genome Curation PageHaploinsufficency 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:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MEN1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.