Mediator Complex Subunit 25

Alternative Names

  • MED25
Back to search Result
OMIM Number

610197

NCBI Gene ID

81857

Uniprot ID

Q71SY5

Length

22,106 bases

No. of Exons

19

No. of isoforms

4

Protein Name

Mediator of RNA polymerase II transcription subunit 25

Molecular Mass

78171 Da

Amino Acid Count

747

Genomic Location

chr19:49,818,279-49,840,384

Gene Map Locus
19q13.33

Description

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 and Basel-Vanagait-Smirin-Yosef syndrome. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_030973.4:c.518T>C Lebanonchr19:49829083Uncertain SignificanceLikely Pathogenic, PathogenicBasel-Vanagait-Smirin-Yosef Syndrome NG_017091.1:g.15805T>C; NM_030973.4:c.518T>C ; NP_112235.2:p.Ile173Thr781753774932436
© CAGS 2024. All rights reserved.