NEPRO | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | NEPRO , NET17, C3orf17, nucleolus and neural progenitor protein, ANXD3 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 617089 MGI: 2384836 HomoloGene: 9127 GeneCards: NEPRO | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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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]
Collagen, type II, alpha 1 , also known as COL2A1, is a human gene that provides instructions for the production of the pro-alpha1(II) chain of type II collagen.
Transcription factor 4 (TCF-4) also known as immunoglobulin transcription factor 2 (ITF-2) is a protein that in humans is encoded by the TCF4 gene located on chromosome 18q21.2.
Homeobox expressed in ES cells 1, also known as homeobox protein ANF, is a homeobox protein that in humans is encoded by the HESX1 gene.
Zinc finger E-box-binding homeobox 2 is a protein that in humans is encoded by the ZEB2 gene. The ZEB2 protein is a transcription factor that plays a role in the transforming growth factor β (TGFβ) signaling pathways that are essential during early fetal development.
Growth arrest-specific protein 3 (GAS-3), also called peripheral myelin protein 22 (PMP22), is a protein which in humans is encoded by the PMP22 gene.
Transcription factor SOX-9 is a protein that in humans is encoded by the SOX9 gene.
Proline dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the PRODH gene.
Ribonucleases P/MRP protein subunit POP1 is a protein that in humans is encoded by the POP1 gene.
Protein atonal homolog 1 is a protein that in humans is encoded by the ATOH1 gene.
RNA component of mitochondrial RNA processing endoribonuclease, also known as RMRP, is a human gene.
Synaptotagmin-11 is a protein that in humans is encoded by the SYT11 gene.
Protein Red is a protein that in humans is encoded by the IK gene.
Transcription factor HES-5 is a protein that in humans is encoded by the HES5 gene.
Protein Jumonji is a protein that in humans is encoded by the JARID2 gene. JARID2 is a member of the alpha-ketoglutarate-dependent hydroxylase superfamily.
UTP4 is a gene that encodes the protein Cirhin, the gene is also known as CIRH1A and NAIC. This protein contains a WD40 repeat and is localized to the nucleolus where it colocates with UTP15 and WDR43. Biallelic mutations to UTP4 have been associated with North American Indian childhood cirrhosis, a form of inherited cirrhosis of the liver occurring in American Indian children from the Abitibi region of northern Quebec.
Ectodysplasin-A receptor-associated adapter protein is a protein that in humans is encoded by the EDARADD gene.
Neuronal membrane glycoprotein M6-a is a protein that in humans is encoded by the GPM6A gene.
SOX1 is a gene that encodes a transcription factor with a HMG-box DNA-binding domain and functions primarily in neurogenesis. SOX1, SOX2 and SOX3, members of the SOX gene family, contain transcription factors related to SRY, the testis-determining factor.
Synaptotagmin XIV is a protein that in humans is encoded by the SYT14 gene.
Cytoskeleton associated protein 2 like is a protein that in humans is encoded by the CKAP2L gene.