95769-6
BMPR1A gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method
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Part Descriptions
LP185951-3 BMPR1A gene
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
LP185951-3 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
Fully-Specified Name
- Component
- BMPR1A gene deletion+duplication & full mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Short Name
- BMPR1A Del+Dup + Full Mut Anl Bld/T
- Display Name
- BMPR1A gene del+dup and full mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- BMPR1A gene variant analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.69
- Last Updated
- Version 2.69
- Order vs. Observation
- Both
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen BMPR1A estudio delecion+duplicacion y estudio mutacional completo: |
| es-MX | Spanish (Mexico) | Deleción del gen BMPR1A + duplicación y análisis de mutación completo: |
| fr-FR | French (France) | BMPR1A gène délétion+duplication et analyse complète des mutations: |
| it-IT | Italian (Italy) | gene BMPR1A Delezione+duplicazione & analisi di mutazione completa: Synonyms: delezione e duplicazione Genetica molecolare Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | BMPR1A-gen deletie + duplicatie & volledige mutatie analyse: Synonyms: BMPR1A gen molgen |
| tr-TR | Turkish (Turkey) | BMPR1A geni delesyon+duplikasyon ve tam mutasyon analizi: Synonyms: çiftleme |
| zh-CN | Chinese (China) | BMPR1A 基因 缺失+重复与全面的突变分析: Synonyms: 临床文档型; |
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