3iz2: Difference between revisions

From Proteopedia
Jump to navigationJump to search
← Older editNewer edit →
OCA (talk | contribs)
Bots, Bureaucrats, journal, Administrators
3,330,058 edits
m Protected "3iz2" [edit=sysop:move=sysop]
OCA (talk | contribs)
Bots, Bureaucrats, journal, Administrators
3,330,058 edits
No edit summary
Line 1: Line 1:
[[Image:3iz2.png|left|200px]]
<!--
The line below this paragraph, containing "STRUCTURE_3iz2", creates the "Structure Box" on the page.
You may change the PDB parameter (which sets the PDB file loaded into the applet)
or the SCENE parameter (which sets the initial scene displayed when the page is loaded),
or leave the SCENE parameter empty for the default display.
-->
{{STRUCTURE_3iz2|  PDB=3iz2  |  SCENE=  }}  
{{STRUCTURE_3iz2|  PDB=3iz2  |  SCENE=  }}  
===C-alpha model fitted into the EM structure of Cx26M34Adel2-7===
===C-alpha model fitted into the EM structure of Cx26M34Adel2-7===
{{ABSTRACT_PUBMED_21094651}}


==Disease==
[[http://www.uniprot.org/uniprot/CXB2_HUMAN CXB2_HUMAN]] KID syndrome;Knuckle pads - leuconychia - sensorineural deafness;Autosomal dominant nonsyndromic sensorineural deafness type DFNA;Autosomal recessive nonsyndromic sensorineural deafness type DFNB;Palmoplantar keratoderma - deafness;Keratoderma hereditarium mutilans. Defects in GJB2 are the cause of deafness autosomal recessive type 1A (DFNB1A) [MIM:[http://omim.org/entry/220290 220290]]. DFNB1A is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.<ref>PMID:11439000</ref><ref>PMID:14722929</ref><ref>PMID:15666300</ref><ref>PMID:15994881</ref><ref>PMID:9328482</ref><ref>PMID:9336442</ref><ref>PMID:9529365</ref><ref>PMID:9471561</ref><ref>PMID:10830906</ref><ref>PMID:11313763</ref><ref>PMID:12239718</ref><ref>PMID:12121355</ref><ref>PMID:12786758</ref><ref>PMID:15592461</ref><ref>PMID:17660464</ref><ref>PMID:19384972</ref>  Defects in GJB2 are the cause of deafness autosomal dominant type 3A (DFNA3A) [MIM:[http://omim.org/entry/601544 601544]].  Defects in GJB2 are a cause of Vohwinkel syndrome (VS) [MIM:[http://omim.org/entry/124500 124500]]. VS is an autosomal dominant disease characterized by hyperkeratosis, constriction on finger and toes and congenital deafness.<ref>PMID:12668604</ref><ref>PMID:10369869</ref>  Defects in GJB2 are a cause of palmoplantar keratoderma with deafness (PPKDFN) [MIM:[http://omim.org/entry/148350 148350]]. PPKDFN is an autosomal dominant disorder characterized by the association of palmoplantar hyperkeratosis with progressive, bilateral, high-frequency, sensorineural deafness.<ref>PMID:12668604</ref><ref>PMID:9856479</ref><ref>PMID:10757647</ref><ref>PMID:10633135</ref><ref>PMID:12372058</ref><ref>PMID:15996214</ref><ref>PMID:17993581</ref>  Defects in GJB2 are a cause of keratitis-ichthyosis-deafness syndrome (KID syndrome) [MIM:[http://omim.org/entry/148210 148210]]; an autosomal dominant form of ectodermal dysplasia. Ectodermal dysplasias (EDs) constitute a heterogeneous group of developmental disorders affecting tissues of ectodermal origin. EDs are characterized by abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. KID syndrome is characterized by the association of hyperkeratotic skin lesions with vascularizing keratitis and profound sensorineural hearing loss. Clinical features include deafness, ichthyosis, photobia, absent or decreased eyebrows, sparse or absent scalp hair, decreased sweating and dysplastic finger and toenails.  Defects in GJB2 are the cause of Bart-Pumphrey syndrome (BPS) [MIM:[http://omim.org/entry/149200 149200]]. BPS is an autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, It shows considerable phenotypic variability.<ref>PMID:15482471</ref><ref>PMID:15952212</ref>  Defects in GJB2 are the cause of ichthyosis hystrix-like with deafness syndrome (HID syndrome) [MIM:[http://omim.org/entry/602540 602540]]. HID syndrome is an autosomal-dominant inherited keratinizing disorder characterized by sensorineural deafness and spiky hyperkeratosis affecting the entire skin. HID syndrome is considered to differ from the similar KID syndrome in the extent and time of occurrence of skin symptoms and the severity of the associated keratitis.


<!--
==Function==
The line below this paragraph, {{ABSTRACT_PUBMED_21094651}}, adds the Publication Abstract to the page
[[http://www.uniprot.org/uniprot/CXB2_HUMAN CXB2_HUMAN]] One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.  
(as it appears on PubMed at http://www.pubmed.gov), where 21094651 is the PubMed ID number.
-->
{{ABSTRACT_PUBMED_21094651}}


==About this Structure==
==About this Structure==
Line 22: Line 13:


==Reference==
==Reference==
<ref group="xtra">PMID:21094651</ref><references group="xtra"/>
<ref group="xtra">PMID:021094651</ref><references group="xtra"/><references/>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Cone, A.]]
[[Category: Cone, A.]]
Line 34: Line 25:
[[Category: Tani, K.]]
[[Category: Tani, K.]]
[[Category: Toloue, M M.]]
[[Category: Toloue, M M.]]
[[Category: Gap junction channel]]
[[Category: Membrane protein]]
Retrieved from "https://proteopedia.org/3iz2"