GeneID: 102
Names
Common Name: | BMPR1A | Type: | Gene |
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Chromosome: | 10 (NC_000010.11) | Locus: | NG_009362.1 (BMPR1A) |
HUGO Symbol: | BMPR1A | Full Name: | bone morphogenetic protein receptor type 1A |
Exons: | 13 | Introns: | 12 |
Description:
BMPR1A is a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The BMPs are signalling molecules that belong to the transforming growth factor β (TGFβ) family of proteins and participate in several processes including cell growth, development, morphogenesis, apoptosis and immune responses. BMPs transduce their signal through the formation of heteromeric complexes with type-I and type-II receptors, which in turn activate downstream transcriptional regulators called SMADs. BMPR1A is a type-I receptor. Type-II receptors bind ligands but they require their respective type-I receptors for signalling. Polymorphisms in this gene associated with bacteremia in sickle cell patients.
Synonyms: ALK3 , SKR5 , CD292 , ACVRLK3
Comments:
N/A
Number of entries/variants: 2
Publications / Origin
- Adewoye AH, Nolan VG, Ma Q, Baldwin C, Wyszynski DF, Farrell JJ, Farrer LA, Steinberg MH, Association of polymorphisms of IGF1R and genes in the transforming growth factor- beta /bone morphogenetic protein pathway with bacteremia in sickle cell anemia., Clin. Infect. Dis. , 43(5), 593-8, 2006
- Miyazono K, Kamiya Y, Morikawa M, Bone morphogenetic protein receptors and signal transduction., J. Biochem. , 147(1), 35-51, 2010
A/A | Date | Curator(s) | Comments |
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1 | 2016-04-27 11:19:24 | The IthaGenes Curation Team | Created |