GDF3 wt Allele

Preferred Label : GDF3 wt Allele;

NCIt synonyms : MCOP7; Growth Differentiation Factor 3 wt Allele; KFS3; UNQ222/PRO248; MCOPCB6;

NCIt definition : Human GDF3 wild-type allele is located in the vicinity of 12p13.1 and is approximately 6 kb in length. This allele, which encodes growth/differentiation factor 3 protein, plays a role in cellular differentiation in embryogenesis and during maturation. Mutation of the gene is associated with Klippel-Feil syndrome type 3, microphthalmia isolated with coloboma type 6 and microphthalmia isolated type 7.;

GenBank Accession Number : AF263538;

Details

Origin ID

C101650;

UMLS CUI

C3539664;

OMIM relation
- Growth/differentiation factor 3 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [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]
- Eye Development [NCIt concept]
- Intercellular Communication Process [NCIt concept]
- Receptor Signaling [NCIt concept]
- Skeletal Development [NCIt concept]

Keyword's position in hierarchy(ies) :

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