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This protein is important in the bone morphogenic protein (BMP) pathway that is responsible for the development and repair of the skeletal system. While knockout models with this gene are in progress, the ACVR1 gene has been connected to fibrodysplasia ossificans progressiva , an extremely rare progressive genetic disease characterized by ...
Bone morphogenetic proteins (BMPs) are a group of growth factors also known as cytokines and as metabologens. [1] Professor Marshall Urist and Professor Hari Reddi discovered their ability to induce the formation of bone and cartilage, BMPs are now considered to constitute a group of pivotal morphogenetic signals, orchestrating tissue architecture throughout the body.
Fibrodysplasia ossificans progressiva (/ ˌ f aɪ b r oʊ d ɪ ˈ s p l eɪ ʒ (i) ə ɒ ˈ s ɪ f ɪ k æ n z p r ə ˈ ɡ r ɛ s ɪ v ə /; [1] abbr. FOP), also called Münchmeyer disease or formerly myositis ossificans progressiva, is an extremely rare connective tissue disease in which fibrous connective tissue such as muscle, tendons, and ligaments turn into bone tissue (ossification).
Type 1 contains a glycine-serine-rich domain to be phosphorylated by type 2 kinase domain, initiating the signaling transduction pathway of the SMAD signaling cascade. [3] The wrist epitope motif on BMP-2 has a high-affinity binding site for BMPR-IA. The knuckle epitope motif on BMP-2 has a low-affinity binding site for BMPR-II. [4]
BMPR1B is a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis.
Repulsive guidance molecule A (RGMa) is a bone morphogenetic protein (BMP) co-receptor of the repulsive guidance molecule family. Together with BMPR1A and BMPR1B, as well as ACVR2A and BMPR2, it binds BMPs thereby activating the intracellular SMAD1/5/8 signalling pathway. [5] In humans this protein is encoded by the RGMA gene. [6]
654 12161 Ensembl ENSG00000153162 n/a UniProt P22004 P20722 RefSeq (mRNA) NM_001718 NM_007556 RefSeq (protein) NP_001709 NP_031582 Location (UCSC) Chr 6: 7.73 – 7.88 Mb n/a PubMed search Wikidata View/Edit Human View/Edit Mouse Bone morphogenetic protein 6 is a protein that in humans is encoded by the BMP6 gene. The protein encoded by this gene is a member of the TGFβ superfamily. Bone ...
12166 Ensembl ENSG00000107779 ENSMUSG00000021796 UniProt P36894 P36895 RefSeq (mRNA) NM_004329 NM_009758 RefSeq (protein) NP_004320 NP_033888 Location (UCSC) Chr 10: 86.76 – 86.93 Mb Chr 14: 34.13 – 34.23 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse The bone morphogenetic protein receptor, type IA also known as BMPR1A is a protein which in humans is encoded by the BMPR1A gene ...