NRTN wt Allele

Preferred Label : NRTN wt Allele;

NCIt synonyms : NTN; Neurturin wt Allele;

NCIt definition : Human NTRN wild-type allele is located in the vicinity of 19p13.3 and is approximately 5 kb in length. This allele, which encodes neurturin protein, is involved in promoting the survival of neuronal populations.;

NCIt note : This gene encodes neurturin, a member of the TGF-beta subfamily. This gene signals through RET and a GPI-linked co-receptor, and promotes survival of neuronal populations. A neurturin mutation has been described in a family with Hirschsprung Disease.;

GenBank Accession Number : NM_004558;

Details

Origin ID

C52013;

UMLS CUI

C1706274;

OMIM relation
- Neurturin [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_associated_with_disease
- Hirschsprung Disease [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 19p13.3 [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- Cell Proliferation Regulatory Process [NCIt concept]
- Cytokine Signaling [NCIt concept]
- Cytokine Signaling Process [NCIt concept]
- Intercellular Communication Process [NCIt concept]
- Neural Development [NCIt concept]
- Receptor Signaling [NCIt concept]

Keyword's position in hierarchy(ies) :

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