WDR72

WD repeat-containing protein 72 is a protein that in humans is encoded by the WDR72 gene.[5] WDR72 contains 7 WD40 repeats, which are predicted to form the blades of a 7 beta propeller structure.

WDR72
Identifiers
AliasesWDR72, AI2A3, WD repeat domain 72
External IDsOMIM: 613214 MGI: 3583957 HomoloGene: 52326 GeneCards: WDR72
Orthologs
SpeciesHumanMouse
Entrez

256764

546144

Ensembl

ENSG00000166415

ENSMUSG00000044976

UniProt

Q3MJ13

D3YYM4

RefSeq (mRNA)

NM_001277176
NM_182758

NM_001033500
NM_177908

RefSeq (protein)

NP_001264105
NP_877435

NP_001028672

Location (UCSC)Chr 15: 53.51 – 53.76 MbChr 9: 74.02 – 74.19 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Clinical significance

Mutations in this gene cause autosomal-recessive hypomaturation amelogenesis imperfecta.[6]

References

  1. GRCh38: Ensembl release 89: ENSG00000166415 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000044976 - 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. "Entrez Gene: WD repeat domain 72".
  6. El-Sayed W, Parry DA, Shore RC, Ahmed M, Jafri H, Rashid Y, Al-Bahlani S, Al Harasi S, Kirkham J, Inglehearn CF, Mighell AJ (November 2009). "Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta". Am. J. Hum. Genet. 85 (5): 699–705. doi:10.1016/j.ajhg.2009.09.014. PMC 2775821. PMID 19853237.

Further reading


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