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.

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

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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