22074-9
FGFR3 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
Active
Part Description
LP19706-8 FGFR3 gene
The FGFR3 gene (fibroblast growth factor receptor 3) [HGNC Gene ID:3690] is located on chromosome 4p16.3. This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. Three alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Jul 2009] [NCBI Gene ID:2261]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- FGFR3 gene mutations tested for
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- FGFR3 gene Mut Tested Bld/T
- Display Name
- FGFR3 gene mutations tested for Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- FGFR3 gene variants tested for, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 1.0n
- Last Updated
- Version 2.13
- Order vs. Observation
- Observation
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-AR | Spanish (Argentina) | determinación de mutaciones del gen FGFR3: |
es-ES | Spanish (Spain) | Gen FGFR3 Análisis de mutaciones para...: |
es-MX | Spanish (Mexico) | Mutaciones del gen FGFR3 analizadas para: |
fr-FR | French (France) | FGFR3 gène mutations recherchées: |
it-IT | Italian (Italy) | FGFR3, gene, mutazioni testate per: Synonyms: Gene FGFR3 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
ko-KR | Korean (Korea, Republic Of) | FGFR3 유전자 돌연변이 검사용: |
nl-NL | Dutch (Netherlands) | FGFR3-gen geteste mutaties: Synonyms: FGFR3 gen molgen |
pt-BR | Portuguese (Brazil) | FGFR3 teste para mutação do gene: Synonyms: Achondroplasia; |
ru-RU | Russian (Russian Federation) | FGFR3 ген мутации тестирован на: Synonyms: Кровь Кровь или Ткань Номинальный; |
tr-TR | Turkish (Turkey) | FGFR3 geni mutasyonlar, test edilen: |
zh-CN | Chinese (China) | FGFR3 基因 已测试的突变: Synonyms: ACH; |
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