2024年12月24日 · BMPR1B (Bone Morphogenetic Protein Receptor Type 1B) is a Protein Coding gene. Diseases associated with BMPR1B include Acromesomelic Dysplasia 3 and Brachydactyly, Type A1, D. Among its related pathways are Akt Signaling and NF-kappaB Pathway.

2025年2月8日 · BMPR1B gene in brachydactyly type 2-A family with de novo R486W mutation and a disease phenotype. BMPR1A is necessary for chondrogenesis and osteogenesis, whereas BMPR1B prevents hypertrophic differentiation. CDMP1 promotes type II collagen and aggrecan synthesis of nucleus pulposus cell via the mediation of ALK6.

2025年1月4日 · Title: BMPR1B gene in brachydactyly type 2-A family with de novo R486W mutation and a disease phenotype. BMPR1A is necessary for chondrogenesis and osteogenesis, whereas BMPR1B prevents hypertrophic differentiation.

2022年4月6日 · The bone morphogenetic protein (BMP) receptors are a family of transmembrane serine/threonine kinases that includes the type I receptors BMPR1A and BMPR1B and the type II receptor BMPR2 . These receptors are also closely related to the activin receptors ACVR1 ( 102576 ) and ACVR2 ( 102581 ).

BMPR1B is a receptor that interacts with BMP15 to regulate fertility in some animals, as mutations in BMPR1B are associated with higher ovulation rates and lower transcript levels of BMP15 in oocytes.

2020年9月1日 · Bone morphogenetic proteins (BMPs) are secreted cytokines that control the fate and function of many different cell types. They exert their cellular responses via heteromeric complexes of specific BMP type I and type II serine/threonine kinase receptors, e.g. …

BMP signals are transduced by multiple type I and type II TGFβ family receptors, and of the type I receptors, BMP receptor 1A (BMPR1A) and BMP receptor 1B (BMPR1B) are known to be expressed in rodent granulosa cells.

2015年3月11日 · GDF5 interacts directly as the preferred ligand for the BMP type-1 receptor BMPR1B and is important for both chondrogenesis and digit formation. We report pathogenic variants in BMPR1B that are...

Gene ID: 12167, updated on 11-Feb-2025. This gene encodes a serine/threonine kinase that functions as a receptor for bone morphogenetic proteins (BMPs). The encoded protein is a type I receptor, and forms a complex of two type II and two type I receptors at the cell membrane.

Bone morphogenetic protein receptor 1B (BMPR1B) is a receptor for Growth and Differentiation Factor 5 (GDF5). Mutations in BMPR1B have been found to cause a skeletal syndrome with absent or hypoplastic ovaries [140].