Preferred Label : BMP7 wt Allele;
NCIt synonyms : OP1; Osteogenic Protein 1 Gene; Bone Morphogenetic Protein 7 wt Allele; RP11-560A15.5; OP-1;
NCIt definition : Human BMP7 wild-type allele is located within 20q13 and is approximately 96 kb in
length. This allele, which encodes bone morphogenetic protein 7, plays a role in embryogenesis
and bone induction.;
NCIt note : The BMP7 gene at chromosome 20q13 encodes a protein that is a member of the TGF-beta
family. Bone morphogenetic protein 7 signals through receptor serine/threonine kinases
and has very strong similarity to murine Bmp7. At all anatomical sites disrupted by
Holt-Oram syndrome mutations, BMP7 is expressed in all structures that are altered
in Holt-Oram Syndrome patients, including the heart, proximal and distal forelimb,
clavicle, and scapula, as well as other unaffected tissues. BMP7 is also expressed
in the neural retina, lens, and developing cornea.;
GenBank Accession Number : NM_001719;
Origin ID : C51533;
UMLS CUI : C1706898;
Automatic exact mappings (from CISMeF team)
- OMIM relation
- Semantic type(s)
- concept_is_in_subset
- gene_found_in_organism
- gene_has_physical_location
- gene_in_chromosomal_location
- gene_is_element_in_pathway
- gene_plays_role_in_process
