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IRF2BPL

From Wikipedia, the free encyclopedia
IRF2BPL
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesIRF2BPL, C14orf4, EAP1, interferon regulatory factor 2 binding protein like, enhanced at puberty protein 1, NEDAMSS
External IDsOMIM: 611720; MGI: 2442463; HomoloGene: 11555; GeneCards: IRF2BPL; OMA:IRF2BPL - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_024496

NM_145836

RefSeq (protein)

NP_078772

NP_665835

Location (UCSC)Chr 14: 77.02 – 77.03 MbChr 12: 86.93 – 86.93 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Interferon regulatory factor 2 binding protein like is a protein that in humans is encoded by the IRF2BPL gene.[5][6][7] Mutations are associated with neurological problems.[8] More specifically, mutations of the gene cause the NEDAMSS syndrome, whose abbreviation stands for NEurodevelopmental Disorder with regression, Abnormal Movements, loss of Speech, and Seizures, first described in 2018.

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000119669Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000034168Ensembl, 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. ^ Rampazzo A, Pivotto F, Occhi G, Tiso N, Bortoluzzi S, Rowen L, Hood L, Nava A, Danieli GA (Nov 2000). "Characterization of C14orf4, a novel intronless human gene containing a polyglutamine repeat, mapped to the ARVD1 critical region". Biochemical and Biophysical Research Communications. 278 (3): 766–74. doi:10.1006/bbrc.2000.3883. PMID 11095982.
  6. ^ Heger S, Mastronardi C, Dissen GA, Lomniczi A, Cabrera R, Roth CL, Jung H, Galimi F, Sippell W, Ojeda SR (Aug 2007). "Enhanced at puberty 1 (EAP1) is a new transcriptional regulator of the female neuroendocrine reproductive axis". The Journal of Clinical Investigation. 117 (8): 2145–54. doi:10.1172/JCI31752. PMC 1906733. PMID 17627301.
  7. ^ "IRF2BPL interferon regulatory factor 2 binding protein like [ Homo sapiens (human) ]".
  8. ^ Paul C. Marcogliese; et al. (2018). "IRF2BPL Is Associated with Neurological Phenotypes". American Journal of Human Genetics. 103 (2): 245–260. doi:10.1016/j.ajhg.2018.07.006. PMC 6081494. PMID 30057031.
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Further reading

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