3caf: Difference between revisions

== Structural highlights ==

<table><tr><td colspan='2'>[[3caf]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3CAF OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=3CAF FirstGlance]. <br>

== Disease ==

[[http://www.uniprot.org/uniprot/FGFR2_HUMAN FGFR2_HUMAN]] Defects in FGFR2 are the cause of Crouzon syndrome (CS) [MIM:[http://omim.org/entry/123500 123500]]; also called craniofacial dysostosis type I (CFD1). CS is an autosomal dominant syndrome characterized by craniosynostosis (premature fusion of the skull sutures), hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism.<ref>PMID:19387476</ref> <ref>PMID:17803937</ref> [:]<ref>PMID:7581378</ref> <ref>PMID:7987400</ref> <ref>PMID:7874170</ref> <ref>PMID:7655462</ref> <ref>PMID:8528214</ref> <ref>PMID:8644708</ref> <ref>PMID:8946174</ref> <ref>PMID:8956050</ref> <ref>PMID:9002682</ref> <ref>PMID:9152842</ref> <ref>PMID:9677057</ref> <ref>PMID:9521581</ref> <ref>PMID:10574673</ref> <ref>PMID:11173845</ref> <ref>PMID:11380921</ref> <ref>PMID:11781872</ref>  Defects in FGFR2 are a cause of Jackson-Weiss syndrome (JWS) [MIM:[http://omim.org/entry/123150 123150]]. JWS is an autosomal dominant craniosynostosis syndrome characterized by craniofacial abnormalities and abnormality of the feet: broad great toes with medial deviation and tarsal-metatarsal coalescence.<ref>PMID:19387476</ref> <ref>PMID:7874170</ref> <ref>PMID:8528214</ref> <ref>PMID:8644708</ref> <ref>PMID:9677057</ref> <ref>PMID:9385368</ref>  Defects in FGFR2 are a cause of Apert syndrome (APRS) [MIM:[http://omim.org/entry/101200 101200]]; also known as acrocephalosyndactyly type 1 (ACS1). APRS is a syndrome characterized by facio-cranio-synostosis, osseous and membranous syndactyly of the four extremities, and midface hypoplasia. The craniosynostosis is bicoronal and results in acrocephaly of brachysphenocephalic type. Syndactyly of the fingers and toes may be total (mitten hands and sock feet) or partial affecting the second, third, and fourth digits. Intellectual deficit is frequent and often severe, usually being associated with cerebral malformations.<ref>PMID:15190072</ref> <ref>PMID:19387476</ref> <ref>PMID:9002682</ref> <ref>PMID:9677057</ref> <ref>PMID:11781872</ref> <ref>PMID:7668257</ref> <ref>PMID:11390973</ref> <ref>PMID:7719344</ref> <ref>PMID:9452027</ref>  Defects in FGFR2 are a cause of Pfeiffer syndrome (PS) [MIM:[http://omim.org/entry/101600 101600]]; also known as acrocephalosyndactyly type V (ACS5). PS is characterized by craniosynostosis (premature fusion of the skull sutures) with deviation and enlargement of the thumbs and great toes, brachymesophalangy, with phalangeal ankylosis and a varying degree of soft tissue syndactyly. Three subtypes of Pfeiffer syndrome have been described: mild autosomal dominant form (type 1); cloverleaf skull, elbow ankylosis, early death, sporadic (type 2); craniosynostosis, early demise, sporadic (type 3).<ref>PMID:16844695</ref> <ref>PMID:19387476</ref> <ref>PMID:17803937</ref> <ref>PMID:8644708</ref> <ref>PMID:9002682</ref> <ref>PMID:11173845</ref> <ref>PMID:11781872</ref> <ref>PMID:7719333</ref> <ref>PMID:7719345</ref> <ref>PMID:9150725</ref> <ref>PMID:9693549</ref> <ref>PMID:9719378</ref> <ref>PMID:10394936</ref> <ref>PMID:10945669</ref>  Defects in FGFR2 are the cause of Beare-Stevenson cutis gyrata syndrome (BSCGS) [MIM:[http://omim.org/entry/123790 123790]]. BSCGS is an autosomal dominant condition is characterized by the furrowed skin disorder of cutis gyrata, acanthosis nigricans, craniosynostosis, craniofacial dysmorphism, digital anomalies, umbilical and anogenital abnormalities and early death.<ref>PMID:19387476</ref> <ref>PMID:8696350</ref> <ref>PMID:12000365</ref>  Defects in FGFR2 are the cause of familial scaphocephaly syndrome (FSPC) [MIM:[http://omim.org/entry/609579 609579]]; also known as scaphocephaly with maxillary retrusion and mental retardation. FSPC is an autosomal dominant craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, hypertelorism, maxillary retrusion, and mild intellectual disability. Scaphocephaly is the most common of the craniosynostosis conditions and is characterized by a long, narrow head. It is due to premature fusion of the sagittal suture or from external deformation.<ref>PMID:19387476</ref> <ref>PMID:17803937</ref> <ref>PMID:16061565</ref>  Defects in FGFR2 are a cause of lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:[http://omim.org/entry/149730 149730]]; also known as Levy-Hollister syndrome. LADDS is a form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. LADDS is an autosomal dominant syndrome characterized by aplastic/hypoplastic lacrimal and salivary glands and ducts, cup-shaped ears, hearing loss, hypodontia and enamel hypoplasia, and distal limb segments anomalies. In addition to these cardinal features, facial dysmorphism, malformations of the kidney and respiratory system and abnormal genitalia have been reported. Craniosynostosis and severe syndactyly are not observed.<ref>PMID:19387476</ref> <ref>PMID:18056630</ref> <ref>PMID:16501574</ref>  Defects in FGFR2 are the cause of Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (ABS2) [MIM:[http://omim.org/entry/207410 207410]]. A rare syndrome characterized by craniosynostosis, radiohumeral synostosis present from the perinatal period, midface hypoplasia, choanal stenosis or atresia, femoral bowing and multiple joint contractures. Arachnodactyly and/or camptodactyly have also been reported.<ref>PMID:19387476</ref> <ref>PMID:10633130</ref>  Defects in FGFR2 are the cause of Bent bone dysplasia syndrome (BBDS) [MIM:[http://omim.org/entry/614592 614592]]. BBDS is a perinatal lethal skeletal dysplasia characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones. Dysmorphic facial features included low-set ears, hypertelorism, midface hypoplasia, prematurely erupted fetal teeth, and micrognathia.<ref>PMID:19387476</ref> <ref>PMID:22387015</ref>   

[[Category: Homo sapiens]]

[[Category: Receptor protein-tyrosine kinase]]

[[Category: Atp-binding]]

[[Category: D2]]