MANF wt Allele

Preferred Label : MANF wt Allele;

NCIt synonyms : ARMET; MGC142150; Arginine-Rich Mutated In Early Stage Tumors Gene; Mesencephalic Astrocyte-Derived Neurotrophic Factor wt Allele; ARP; MGC142148; ARMET wt Allele;

NCIt definition : Human MANF wild-type allele is located in the vicinity of 3p21.1 and is approximately 4 kb in length. This allele, which encodes mesencephalic astrocyte-derived neurotrophic factor protein, plays a role in both the modulation of GABA neurotransmission and the mediation of dopaminergic neuron survival.;

NCIt note : The product of the MANF gene was originally thought to have an arginine-rich sequence in the amino terminal region, however; this genetic information is in the 5'-untranslated region of the mRNA. The mutation that is involved in tumor formation occurs in the initiation codon of the gene (previously numbered as codon 50) and results from either deletion of the codon or a point mutation (AUG to AGG). (Entrez Gene and SwissProt);

GenBank Accession Number : M83751;

Détails

Origin ID

C54330;

UMLS CUI

C1705841;

OMIM relation
- Mesencephalic astrocyte-derived neurotrophic factor [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 3: 51397518-51401815 [NCIt concept]
gene_in_chromosomal_location
- 3p21.1 [NCIt concept]
gene_plays_role_in_process
- Cell Proliferation Regulatory Process [NCIt concept]
- Nerve Cell Survival [NCIt concept]
- Receptor Binding [NCIt concept]
- Receptor Signaling [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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