Nucleolus and neural progenitor protein

NEPRO
Identifiers
Aliases	NEPRO, NET17, C3orf17, nucleolus and neural progenitor protein, ANXD3
External IDs	OMIM: 617089; MGI: 2384836; GeneCards: NEPRO
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
Databases	NCBI: entry; OMA: entry
	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]

AliasesNEPRO, NET17, C3orf17, nucleolus and neural progenitor protein, ANXD3

End113,019,861 bp^[1]

Quick facts NEPRO, Identifiers ...

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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