Fibroblast growth factor receptor 3 is a protein that is encoded by the FGFR3 gene in humans. FGFR3 is also, it has been designated a (cluster of differentiation 333) CD333. Amino acids are evolutionarily conserved and highly inter-member, wherein the protein the gene encodes is a member of the fibroblast growth factor receptor family. FGFR family members, are different from each other and tissue distribution affinity ligands thereof.
Immunoglobulin-like domains of the three transmembrane segments of the hydrophobic agent and the full-length protein is composed of an extracellular region consisting of the cytoplasmic tyrosine kinase domain. Trigger a cascade of downstream signals affect the differentiation and mitosis Finally, the extracellular portion of the protein is reacted with fibroblast growth factor. Combines the basic fibroblast growth hormone and acidic this particular family members, play an important role in the development and maintenance of the bone. Mutations in this gene leads to multiple types of craniosynostosis and skeletal dysplasia. Alternative splicing occurs, including the use of 9 Without doing an alternative exon 8, additional embodiments are disclosed, but their full length nature has not been determined.
FGFR3 gene provides a procedure for the preparation of a protein called fibroblast growth factor receptor 3. This protein is part 4 of fibroblast growth factor receptor family, which has a structure and function similar. Regulation of growth and division of cells, determination of cell types, blood vessel formation, wound healing, as well as these proteins play a role in important cellular processes including some embryonic development.
The FGFR3 protein to remain inside the end projects from the other extracellular surface of the cell, one end of the protein, including the cell membrane. It is possible proteins to interact with certain growth factors to the extracellular, the positioning receives a signal for controlling the growth and development. The growth factors of these, when attached to the FGFR3 protein, protein, a cascade of intracellular reactions that instructs the cell to undergo some changes such as aging to receive special features such induce, is a activated.
Produced by the FGFR3 gene in some versions of FGFR3 protein (isoforms). different isoforms are found in various tissues of the body, they are interacting with other growth factors. Many isoforms have been found in cells that form bone. Researchers believe that in the long bones, especially from (a process called ossification) cartilage, by limiting the formation of bone, and regulate the growth of bone FGFR3 protein cells of the bone. Wire surfaces of the body including the cells that form the outermost layer of the skin (epithelial cells), isoform specific FGFR3 protein is found particularly in cells called the epidermis.
Leading to 99% more than an example of achondroplasia in the form of a limb dwarfism mutations in the two FGFR3 gene is short. Both mutations cause changes in protein FGFR3. Specifically, building block proteins (amino acids), it is replaced by the amino acid arginine (shown as G380R or Gly380Arg) 380 protein glycine, position. The researchers, I believe will lead to failure of bone growth that receptor induced by this genetic change occurs in this state, and can be active too.
It is caused by mutations in the FGFR3 gene – Crouzonodermoskeletal syndrome
One FGFR3 gene mutation, was discovered in human Crouzonodermoskeletal syndrome is a condition that causes deformation of the features of the face and head, the premature closure of the skull bone leading to skin abnormalities (craniosynostosis). I replaces the amino acid alanine with the amino acid glutamic acid (given as A391E or Ala391Glu) position 391 of the protein in the FGFR3 gene change that causes this condition. This mutation was determined how leading to signs and symptoms of the disease, but the receptors that have been modified, it violates the normal growth of the bone of the skull, researchers, and affects skin pigmentation seems.
It is caused by mutations in the FGFR3 gene – hypochondroplasia 20 mutations have been identified in people with other forms of short soft hypochondroplasia, from achondroplasia limb dwarfism at least in FGFR3 gene. In many cases, it is caused by any of the results of both FGFR3 mutation of two specific, the same changes in protein FGFR3. Specifically, it is substituted with lysine amino acid (shown as Asn540Lys N540K) or position 540 of the amino acid asparagine protein. FGFR3 gene mutations other, causing some cases of hypochondroplasia probably. Effects of these mutations have been described, it is possible to cause a disturbance of bone growth that occurs in this state, causes the receiving svrahaktivizirane slightly thereof.
It is caused by mutations in the FGFR3 gene – lacrimo-pinna-Dento digital syndrome
It lacrimo-pinna-DENT digital mutation of one cause (Rudd) syndrome has been found in at least FGFR3 gene. The main feature of Rudd syndrome is a variation ear and hand deformity abnormal lacrimation, hearing loss, decreased saliva, and small teeth. Gene mutation that causes Rudd syndrome FGFR3 is replaced by the amino acid aspartic acid of the amino acid asparagine at position 513 (shown as D513N or Asp513Asn) FGFR3 receptor protein. Perhaps, this mutation reduces the ability of the receptor protein FGFR3 to induce a chemical reaction in the cells attached to the growth factor. Cell signaling confusion and development of mature cells lead abnormal ear skeleton, the formation of the gland, and these defects Rudd mouth and eyes in the human syndrome.
It is caused by mutations in the FGFR3 gene – Muenke syndrome
The mutations in FGFR3 gene causing Muenke syndrome leading to deformation of the facial features and head, the state that causes craniosynostosis is shown. Mutation that causes the state of the amino acid arginine substituents for (written as P250R or Pro250Arg) proline amino acid at position 250 of the protein FGFR3 within. You can bone of the skull to converge faster than usual, this mutation results in the production of the receptor is over-active.
The Pro250Arg mutation, it has been discovered in some people and coronary craniosynostosis, which is clearly separated. This condition is characterized by premature growth line through the top of the (coronal suture) head from ear to ear. People with coronary isolated craniosynostosis, such loss, do not have the other features of Muenke syndrome as hearing a developmental delay or abnormality of the hands and feet.
SADDAN – caused by mutations in the FGFR3 gene, mutations in the FGFR3 gene is found in people with (achondroplasia with severe acanthosis nigricans of black skin and developmental delay) SADDAN. SADDAN features (achondroplasia) deep thickness and deceleration, dark, and skin like velvet short limb dwarfism. In (written as K650M or Lys650Met) amino acid position 650 of this condition alternative protein FGFR3, genetic changes that cause lysine, methionine, an amino acid. Researchers believe that overactivates of FGFR3 protein that this mutation leads to serious problems in the growth of bone strong. This is how opaque mutations cause acanthosis nigricans of black skin or developmental delays.
It is caused by mutations in the FGFR3 gene – lethal dysplasia Thin chest and limbs very short lethal skeletal dysplasia with severe disease characteristics, mutations in FGFR3 gene have been identified in patients. The 10 FGFR3 gene mutation, causing the input I thanatophoric dysplasia has been found at least. Most of these mutations, I changing one amino acid in the protein FGFR3. Mutation artificial most common amino acid cysteine of arginine in (shown as R248C or Arg248Cys) 248 protein amino acid position. Other mutations, which cause protein is longer than normal. Can cause thanatophoric dysplasia type II has been shown that mutation only. This mutation replaces the amino acid lysine amino acid glutamic acid at position 650 (written as K650E or Lys650Glu) protein FGFR3. This change will affect the other parts of the protein FGFR3 mutations that I cause the input lethal dysplasia.
The changes in the gene responsible for dysplastic FGFR3 receptor both cause lethal to svrahaktivizirane lead to serious problems in the growth of bone that occurs in this state,,. It is associated with has been acquired during the life of the human gene mutations in some of the FGFR3 gene, a small number of cells of only the present – bladder cancer. These changes, called somatic mutations that are not inherited. Somatic mutations in FGFR3 gene were associated with some cases of bladder cancer. Bladder cells grown perhaps these mutations, FGFR3 protein overactivate instructed to divide abnormally. Uncontrolled cell division will result in the formation of bladder tumors.