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RefSeq: NM_000141.2,
NP_000132
LocusID:
2263
Cytogenetic:
10q26
Domains: pkinase, TyrKc, S_TKc, ig, IGc2, IG
Summary: The protein encoded by this gene is a member of the fibroblast growth factor receptor 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 is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq].
Transcript Variant: This variant (1) lacks an internal exon but has an alternate exon in the CDS, as compared to variant 2. This variant encodes isoform 1, also referred to as isoform BEK and K-sam, which has a different and 1 aa shorter segment in the middle region, compared to isoform 2.
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