LP36216-7
FGFR1 gene
Active
Description
The FGFR1 gene (fibroblast growth factor receptor 1) [HGNC Gene ID:3688] is located on chromosome 8p11.23-p11.22. The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists 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 both acidic and basic fibroblast growth factors and is involved in limb induction. Mutations in this gene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, and autosomal dominant Kallmann syndrome 2. Chromosomal aberrations involving this gene are associated with stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008] [NCBI Gene ID:2260] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Name
- FGFR1 gene
- Part Display Name
- FGFR1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2005-10-21
- Construct for LOINC Short Name
- FGFR1 gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | FGFR1 基因 Synonyms: BFGFR; |
| et-EE | Estonian (Estonia) | FGFR1 geen |
| es-ES | Spanish (Spain) | Gen FGFR1 |
| it-IT | Italian (Italy) | FGFR1, gene Synonyms: Gene FGFR1 |
| tr-TR | Turkish (Turkey) | FGFR1 geni |
| ru-RU | Russian (Russian Federation) | FGFR1 ген |
| nl-NL | Dutch (Netherlands) | FGFR1-gen Synonyms: FGFR1 gen |
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