SERPINF1 wt Allele

Preferred Label : SERPINF1 wt Allele;

NCIt synonyms : EPC-1; Pigment Epithelium-Derived Factor Gene; PEDF; Proliferation-Inducing Protein 35 Gene; Serpin Peptidase Inhibitor, Clade F (Alpha-2 Antiplasmin, Pigment Epithelium Derived Factor), Member 1 wt Allele; OI6; OI12; PIG35;

NCIt definition : Human SERPINF1 wild-type allele is located in the vicinity of 17p13.3 and is approximately 16 kb in length. This allele, which encodes pigment epithelium-derived factor protein, plays a role in both angiogenesis and cell proliferation. Mutation of the gene is associated with osteogenesis imperfecta type 12.;

GenBank Accession Number : M76979;

Details

Origin ID

C101644;

UMLS CUI

C3540534;

OMIM relation
- Serpin peptidase inhibitor, clade f, member 1 [OMIM gene]
See also inter- (CISMeF)
- Osteogenesis imperfecta, type VI [OMIM Phenotype]
- Osteogenesis imperfecta, type XII [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 17p13.3 [NCIt concept]
gene_plays_role_in_process
- Cell Proliferation Regulatory Process [NCIt concept]
- Negative Regulation of Angiogenesis [NCIt concept]
- Neural Development [NCIt concept]

Keyword's position in hierarchy(ies) :

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