2ee6: Difference between revisions

== Structural highlights ==

<table><tr><td colspan='2'>[[2ee6]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2EE6 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2EE6 FirstGlance]. <br>

== Disease ==

[[http://www.uniprot.org/uniprot/FLNB_HUMAN FLNB_HUMAN]] Note=Interaction with FLNA may compensate for dysfunctional FLNA homodimer in the periventricular nodular heterotopia (PVNH) disorder.  Defects in FLNB are the cause of atelosteogenesis type 1 (AO1) [MIM:[http://omim.org/entry/108720 108720]]; also known as giant cell chondrodysplasia or spondylohumerofemoral hypoplasia. Atelosteogenesis are lethal short-limb skeletal dysplasias with vertebral abnormalities, disharmonious skeletal maturation, poorly modeled long bones and joint dislocations.<ref>PMID:14991055</ref>  Defects in FLNB are the cause of atelosteogenesis type 3 (AO3) [MIM:[http://omim.org/entry/108721 108721]]. Atelosteogenesis are short-limb lethal skeletal dysplasias with vertebral abnormalities, disharmonious skeletal maturation, poorly modeled long bones and joint dislocations. In AO3 recurrent respiratory insufficiency and/or infections usually result in early death.<ref>PMID:14991055</ref>  Defects in FLNB are the cause of boomerang dysplasia (BOOMD) [MIM:[http://omim.org/entry/112310 112310]]. This is a perinatal lethal osteochondrodysplasia characterized by absence or underossification of the limb bones and vertebre. Boomerang dysplasia is distinguished from atelosteogenesis on the basis of a more severe defect in mineralisation, with complete absence of ossification in some limb elements and vertebral segments.<ref>PMID:15994868</ref>  Defects in FLNB are the cause of Larsen syndrome (LRS) [MIM:[http://omim.org/entry/150250 150250]]. An osteochondrodysplasia characterized by large-joint dislocations and characteristic craniofacial abnormalities. The cardinal features of the condition are dislocations of the hip, knee and elbow joints, with equinovarus or equinovalgus foot deformities. Spatula-shaped fingers, most marked in the thumb, are also present. Craniofacial anomalies include hypertelorism, prominence of the forehead, a depressed nasal bridge, and a flattened midface. Cleft palate and short stature are often associated features. Spinal anomalies include scoliosis and cervical kyphosis. Hearing loss is a well-recognized complication.<ref>PMID:14991055</ref> <ref>PMID:16801345</ref>  Defects in FLNB are the cause of spondylocarpotarsal synostosis syndrome (SCT) [MIM:[http://omim.org/entry/272460 272460]]; also known as spondylocarpotarsal syndrome (SCT) or congenital synspondylism or vertebral fusion with carpal coalition or congenital scoliosis with unilateral unsegmented bar. The disorder is characterized by short stature and vertebral, carpal and tarsal fusions.<ref>PMID:14991055</ref>   

</StructureSection>

[[Category: Homo sapiens]]

[[Category: Beta-sandwich]]

[[Category: Filamin]]

[[Category: National project on protein structural and functional analyse]]

[[Category: Nppsfa]]

[[Category: Rsgi]]

[[Category: Structural protein]]