Nucleolus_and_neural_progenitor_protein

Nucleolus and neural progenitor protein

Nucleolus and neural progenitor protein

Protein-coding gene in the species Homo sapiens

Nucleolus and neural progenitor protein (NEPRO) is a protein that in humans is encoded by the NEPRO gene. [5]

Quick Facts NEPRO, Identifiers ...

NEPRO functions as a Notch effector for the development and maintenance of neural progenitor cells in the neocortex.[6]

Biallelic variants in NEPRO can cause a very rare ribosomopathy known as anauxetic dysplasia type 3, which is characterized by severely impaired skeletal growth, resulting in severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations.[7][8]

References

  1. [1]
    GRCh38: Ensembl release 89: ENSG00000163608 – Ensembl, May 2017
  2. [2]
    GRCm38: Ensembl release 89: ENSMUSG00000036208 – Ensembl, May 2017
  3. [3]
    "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. [4]
    "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. [5]
    "Entrez Gene: Nucleolus and neural progenitor protein". Retrieved 2017-02-10.
  6. [6]
    Muroyama Y, Saito T (December 2009). "Identification of Nepro, a gene required for the maintenance of neocortex neural progenitor cells downstream of Notch". Development. 136 (23): 3889–93. doi:10.1242/dev.039180. PMID 19906856.
  7. [7]
    Narayanan DL, Shukla A, Kausthubham N, Bhavani GS, Shah H, Mortier G, Girisha KM (September 2019). "An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO". American Journal of Medical Genetics. Part A. 179 (9): 1709–1717. doi:10.1002/ajmg.a.61267. PMID 31250547. S2CID 195760107.
  8. [8]
    Remmelzwaal PC, Verhagen MV, Jongbloed JD, van den Akker PC, Veenstra-Knol HE, Hitzert MM (September 2023). "Expanding the phenotype of anauxetic dysplasia caused by biallelic NEPRO mutations: A case report". American Journal of Medical Genetics. Part A. 191 (9): 2440–2445. doi:10.1002/ajmg.a.63316. PMID 37294112.


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