4jjh
From Proteopedia
| Line 3: | Line 3: | ||
==Disease== | ==Disease== | ||
| - | [[http://www.uniprot.org/uniprot/PVRL4_HUMAN PVRL4_HUMAN]] Ectodermal dysplasia - syndactyly syndrome. Defects in PVRL4 are the cause of ectodermal dysplasia-syndactyly syndrome type 1 (EDSS1) [MIM:[http://omim.org/entry/613573 613573]]. EDSS1 is a form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. EDSS1 is characterized by the association of hair and teeth abnormalities with cutaneous syndactyly of the hands and/or feet. Hair morphologic abnormalities include twists at irregular intervals (pilli torti) and swelling along the shafts, particularly associated with areas of breakage. Dental findings consist of abnormally widely spaced teeth, with peg-shaped and conical crowns. Patients have normal sweating.<ref>PMID:20691405</ref> | + | [[http://www.uniprot.org/uniprot/PVRL4_HUMAN PVRL4_HUMAN]] Ectodermal dysplasia - syndactyly syndrome. Defects in PVRL4 are the cause of ectodermal dysplasia-syndactyly syndrome type 1 (EDSS1) [MIM:[http://omim.org/entry/613573 613573]]. EDSS1 is a form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. EDSS1 is characterized by the association of hair and teeth abnormalities with cutaneous syndactyly of the hands and/or feet. Hair morphologic abnormalities include twists at irregular intervals (pilli torti) and swelling along the shafts, particularly associated with areas of breakage. Dental findings consist of abnormally widely spaced teeth, with peg-shaped and conical crowns. Patients have normal sweating.<ref>PMID:20691405</ref> |
==Function== | ==Function== | ||
| Line 9: | Line 9: | ||
==About this Structure== | ==About this Structure== | ||
| - | [[4jjh]] is a 2 chain structure with sequence from [http://en.wikipedia.org/wiki/ | + | [[4jjh]] is a 2 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4JJH OCA]. |
==Reference== | ==Reference== | ||
<references group="xtra"/><references/> | <references group="xtra"/><references/> | ||
| - | [[Category: | + | [[Category: Human]] |
[[Category: Ahmed, M.]] | [[Category: Ahmed, M.]] | ||
[[Category: Almo, S C.]] | [[Category: Almo, S C.]] | ||
| Line 47: | Line 47: | ||
[[Category: New york structural genomics research consortium]] | [[Category: New york structural genomics research consortium]] | ||
[[Category: Nysgrc]] | [[Category: Nysgrc]] | ||
| - | [[Category: Psi]] | + | [[Category: Psi-biology]] |
[[Category: Structural genomic]] | [[Category: Structural genomic]] | ||
Revision as of 08:27, 27 November 2013
Contents |
Crystal structure of the D1 domain from human Nectin-4 extracellular fragment [PSI-NYSGRC-005624]
Disease
[PVRL4_HUMAN] Ectodermal dysplasia - syndactyly syndrome. Defects in PVRL4 are the cause of ectodermal dysplasia-syndactyly syndrome type 1 (EDSS1) [MIM:613573]. EDSS1 is a form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. EDSS1 is characterized by the association of hair and teeth abnormalities with cutaneous syndactyly of the hands and/or feet. Hair morphologic abnormalities include twists at irregular intervals (pilli torti) and swelling along the shafts, particularly associated with areas of breakage. Dental findings consist of abnormally widely spaced teeth, with peg-shaped and conical crowns. Patients have normal sweating.[1]
Function
[PVRL4_HUMAN] Seems to be involved in cell adhesion through trans-homophilic and -heterophilic interactions, the latter including specifically interactions with PVRL2/nectin-1. Does not act as receptor for alpha-herpesvirus entry into cells.
About this Structure
4jjh is a 2 chain structure with sequence from Human. Full crystallographic information is available from OCA.
Reference
- ↑ Brancati F, Fortugno P, Bottillo I, Lopez M, Josselin E, Boudghene-Stambouli O, Agolini E, Bernardini L, Bellacchio E, Iannicelli M, Rossi A, Dib-Lachachi A, Stuppia L, Palka G, Mundlos S, Stricker S, Kornak U, Zambruno G, Dallapiccola B. Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. Am J Hum Genet. 2010 Aug 13;87(2):265-73. doi: 10.1016/j.ajhg.2010.07.003. PMID:20691405 doi:10.1016/j.ajhg.2010.07.003
Categories: Human | Ahmed, M. | Almo, S C. | Banu, R. | Bhosle, R. | Bonanno, J. | Calarese, D. | Celikigil, A. | Chamala, S. | Chan, M K. | Chowdhury, S. | Fiser, A. | Garforth, S. | Glenn, A S. | Hillerich, B. | IFN, Atoms-to-Animals:.The Immune Function Network. | Khafizov, K. | Kumar, P R. | Love, J. | NYSGRC, New York Structural Genomics Research Consortium. | Nathenson, S G. | Patel, H. | Seidel, R. | Stead, M. | Toro, R. | Atoms-to-animals: the immune function network | Cell adhesion | Ifn | Ig superfamily | Ig-like d1 domain | Immune system | Nectin-4 | New york structural genomics research consortium | Nysgrc | Psi-biology | Structural genomic
