Version 2.77

Descriptions

The BMPR1A gene encodes the bone morphogenetic protein receptor 1A protein. More than 60 mutations in the BMPR1A gene have been found to cause juvenile polyposis syndrome. Most BMPR1A gene mutations result in the production of an abnormally short, nonfunctional protein. As a result, the BMPR1A protein cannot bind to ligands in the TGF-β pathway. This disruption in binding interferes with the activation of the SMAD protein complex. This inactive complex is not transported to the nucleus, where it is needed to regulate cell growth and the activity of certain genes. Unregulated cell growth can lead to polyp formation in people with juvenile polyposis syndrome. Source: Genetic Home Reference, National Library of Medicine, BMPR1A gene

The BMPR1A gene (bone morphogenetic protein receptor, type IA) [HGNC Gene ID:1076] is located on chromosome 10q22.3. The bone morphogenetic protein (BMP) receptors are a family of transmembrane serine/threonine kinases that include the type I receptors BMPR1A and BMPR1B and the type II receptor BMPR2. These receptors are also closely related to the activin receptors, ACVR1 and ACVR2. The ligands of these receptors are members of the TGF-beta superfamily. TGF-betas and activins transduce their signals through the formation of heteromeric complexes with 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. [provided by RefSeq, Jul 2008] [NCBI Gene ID:657] Source: National Center for Biotechnology Information (NCBI) Gene

Basic Part Properties

Part Display Name
BMPR1A gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2014-09-17
Construct for LOINC Short Name
BMPR1A

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP185951-3

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) BMPR1A 基因
Synonyms: 骨形态发生蛋白受体 IA 型;骨骼形态发生蛋白受体 IA 型;骨形成蛋白受体 IA 型;骨形态形成蛋白受体 IA 型;Bone morphogenetic protein receptor, type IA;BMPR1A;抗原分化簇 292;CD292;Cluster of differentiation 292
es-ES Spanish (Spain) Gen BMPR1A
it-IT Italian (Italy) gene BMPR1A
tr-TR Turkish (Turkey) BMPR1A geni
nl-NL Dutch (Netherlands) BMPR1A-gen
Synonyms: BMPR1A gen