What does FGFR3 gene do?
Researchers believe that the FGFR3 protein regulates bone growth by limiting the formation of bone from cartilage (a process called ossification), particularly in the long bones.
What causes FGFR3 mutation?
Only a single copy of the mutated FGFR3 gene results in achondroplasia. It is generally caused by spontaneous mutations in germ cells; roughly 80 percent of the time, parents with children that have this disorder are normal size.
What is FGFR3 antibody?
One of the receptors, FGFR3, is known to be involved in nerve regeneration and axonal development [6]. The intracellular domain of FGFR3 was found to be a target of IgG antibodies in a subgroup of patients with sensory neuropathy, particularly in idiopathic or autoimmune-related cases [7].
How does mutation in FGFR3 cause achondroplasia?
Achondroplasia comes from the genetic point mutations in the fibroblastic growth factor receptor 3 gene (FGFR3), which enables abnormal cartilage growth-plate differentiation and insufficient bony development.
Where is the FGFR3 gene located?
FGFR3, a tyrosine kinase receptor gene, is located at chromosome 4p16. 3 and is composed of 19 exons [14]. The extracellular portion can bind with fibroblast growth factors, initiating cascades of downstream signals that ultimately influence cell growth, migration, angiogenesis, and differentiation [14].
What does Hypochondroplasia mean?
Hypochondroplasia is a form of short-limbed dwarfism. This condition affects the conversion of cartilage into bone (a process called ossification), particularly in the long bones of the arms and legs.
What happens if a human has mutations in HOXD13?
It has been shown that mutations in human HOXD13 can give rise to limb malformations, with variable expressivity and a wide spectrum of clinical manifestations. Polyalanine expansions in HOXD13 cause synpolydactyly, whereas amino acid substitutions in the homeodomain are associated with brachydactyly types D and E.
Where is FGFR3 found?
How serious is small fiber neuropathy?
Small fiber neuropathy is a condition characterized by severe pain attacks that typically begin in the feet or hands. As a person ages, the pain attacks can affect other regions. Some people initially experience a more generalized, whole-body pain.
Is small fiber neuropathy a autoimmune disease?
Small fiber neuropathy has a poorly understood pathology. It can be a result of a variety of diseases, including diabetes mellitus, autoimmune disorders such as Sjögren or sarcoidosis, paraproteinemia, and paraneoplastic syndrome, with diabetes mellitus being the most common cause of SFN (Table 1).
What is the ligand of FGFR3?
FGFR3 is a receptor tyrosine kinase of the FGF receptor family, known to have a negative regulatory effect on long bone growth. Receptor specificity of the fibroblast growth factor family. …
Is FGFR3 a kinase?
UniProtKB/Swiss-Prot Summary for FGFR3 Gene Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation and apoptosis.
How many exons are in the FGFR3 gene?
Perez-Castro et al. (1997) reported that the FGFR3 gene contains 19 exons spanning 16.5 kb. The overall structure and organization of the human FGFR3 gene is nearly identical to that of the mouse Fgfr3 gene.
What is the function of FGF receptor 3?
FGF receptor 3 (FGFR3) is a key regulatory molecule functioning at all stages of chondrogenesis. Immature chondrocytes proliferate in response to FGFR3 signaling ( Havens et al., 2008; Iwata et al., 2000; Iwata, Li, Deng, & Francomano, 2001 ).
Which is member of the FGFR family is conserved?
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.
How is FGFR3 produced in osteosarcoma cells?
Jang (2002) identified a soluble variant of FGFR3 produced by skipping exons 8, 9, and 10 in a human osteosarcoma cell line.