WDR26

Last updated

WDR26
Identifiers
Aliases WDR26 , CDW2, GID7, MIP2, WD repeat domain 26, SKDEAS
External IDs OMIM: 617424; MGI: 1923825; HomoloGene: 11857; GeneCards: WDR26; OMA:WDR26 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001115113
NM_025160
NM_001379403

NM_145514

RefSeq (protein)

NP_001108585
NP_079436
NP_001366332

Location (UCSC) Chr 1: 224.39 – 224.44 Mb Chr 1: 181 – 181.04 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

WD repeat-containing protein 26 is a protein that in humans is encoded by the WDR26 gene. [5]

Function

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. [5]

Clinical significance

Pathogenic variants of the gene cause Skraban–Deardorff syndrome. [6]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000162923 Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000038733 Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 1 2 "Entrez Gene: WDR26 WD repeat domain 26".
  6. Gross A, Müller J, Chrustowicz J, Strasser A, Gottemukkala K, Sherpa D, et al. (2024-04-04). "Skraban–Deardorff intellectual disability syndrome-associated mutations in WDR26 impair CTLH E3 complex assembly". FEBS Letters. 598 (9). Cambridge, England: Federation of European Biochemical Societies: 978–994. doi: 10.1002/1873-3468.14866 . ISSN   1873-3468. PMC   7616460 . PMID   38575527.

Further reading