MED25 mediator complex subunit 25
Gene ID: 81857, updated on 10-Oct-2024Gene type: protein coding
Also known as: P78; ACID1; ARC92; BVSYS; PTOV2; CMT2B2; TCBAP0758
- See all available tests in GTR for this gene
- Go to complete Gene record for MED25
- Go to Variation Viewer for MED25 variants
Summary
This gene encodes a component of the transcriptional coactivator complex termed the Mediator complex. This complex is required for transcription of most RNA polymerase II-dependent genes. The encoded protein plays a role in chromatin modification and in preinitiation complex assembly. Mutations in this gene are associated with Charcot-Marie-Tooth disease type 2B2. [provided by RefSeq, Apr 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Charcot-Marie-Tooth disease type 2B2 | See labs |
| Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome | See labs |
| Genome-wide association study identifies loci affecting blood copper, selenium and zinc. GeneReviews: Not available |
Genomic context
- Location:
- 19q13.33
- Sequence:
- Chromosome: 19; NC_000019.10 (49818289..49840384)
- Total number of exons:
- 19
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MED25 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MED25 database
- 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
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