Nucleolus and neural progenitor protein

NEPRO
Identifiers
Aliases	NEPRO, NET17, C3orf17, nucleolus and neural progenitor protein, ANXD3
External IDs	OMIM: 617089; MGI: 2384836; HomoloGene: 9127; GeneCards: NEPRO; OMA:NEPRO - orthologs
Gene location (Human)
Chr.	Chromosome 3 (human)
End	113,019,861 bp
Gene location (Mouse)
Chr.	Chromosome 16 (mouse)
End	44,557,647 bp
RNA expression pattern
	Top expressed in
	secondary oocyte; ; endothelial cell; ; parietal pleura; ; tibialis anterior muscle; ; visceral pleura; ; germinal epithelium; ; pancreatic epithelial cell; ; epithelium of nasopharynx; ; deltoid muscle; ; Achilles tendon;
	Top expressed in
	tail of embryo; ; otic vesicle; ; primitive streak; ; genital tubercle; ; epiblast; ; Paneth cell; ; otic placode; ; spermatocyte; ; cumulus cell; ; somite;
	More reference expression data
	n/a
Orthologs
	25871
	212547
	ENSG00000163608
	ENSMUSG00000036208
	Q6NW34
	Q8R2U2
NM_001025072; NM_001025073; NM_015412; NM_001319109; NM_001319110;
	NM_001319111; NM_001319112; NM_001319114; NM_001319115
	NM_145972
NP_001306038; NP_001306039; NP_001306040; NP_001306041; NP_001306043;
	NP_001306044; NP_056227
	NP_666084
	Wikidata
View/Edit Human	View/Edit Mouse

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

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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000163608 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000036208 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: Nucleolus and neural progenitor protein". Retrieved 2017-02-10.
^ 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.
^ 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.
^ 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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