2cry

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[[Image:2cry.png|left|200px]]
 
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{{STRUCTURE_2cry| PDB=2cry | SCENE= }}
{{STRUCTURE_2cry| PDB=2cry | SCENE= }}
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===Solution structure of the fifth ig-like domain of human kin of IRRE like 3===
===Solution structure of the fifth ig-like domain of human kin of IRRE like 3===
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==Disease==
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[[http://www.uniprot.org/uniprot/KIRR3_HUMAN KIRR3_HUMAN]] Note=A chromosomal aberration involving KIRREL3 and CDH15 is found in a patient with severe mental retardation and dysmorphic facial features. Translocation t(11;16)(q24.2;q24). Defects in KIRREL3 are the cause of mental retardation autosomal dominant type 4 (MRD4) [MIM:[http://omim.org/entry/612581 612581]]. Mental retardation is characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period.<ref>PMID:19012874</ref>
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==Function==
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[[http://www.uniprot.org/uniprot/KIRR3_HUMAN KIRR3_HUMAN]] Could be involved in the hematopoietic supportive capacity of stroma cells (By similarity).
==About this Structure==
==About this Structure==
[[2cry]] 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=2CRY OCA].
[[2cry]] 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=2CRY OCA].
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==Reference==
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<references group="xtra"/><references/>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Hayashi, F.]]
[[Category: Hayashi, F.]]

Revision as of 19:06, 24 March 2013

Template:STRUCTURE 2cry

Contents

Solution structure of the fifth ig-like domain of human kin of IRRE like 3

Disease

[KIRR3_HUMAN] Note=A chromosomal aberration involving KIRREL3 and CDH15 is found in a patient with severe mental retardation and dysmorphic facial features. Translocation t(11;16)(q24.2;q24). Defects in KIRREL3 are the cause of mental retardation autosomal dominant type 4 (MRD4) [MIM:612581]. Mental retardation is characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period.[1]

Function

[KIRR3_HUMAN] Could be involved in the hematopoietic supportive capacity of stroma cells (By similarity).

About this Structure

2cry is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA.

Reference

  1. ↑ Bhalla K, Luo Y, Buchan T, Beachem MA, Guzauskas GF, Ladd S, Bratcher SJ, Schroer RJ, Balsamo J, DuPont BR, Lilien J, Srivastava AK. Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability. Am J Hum Genet. 2008 Dec;83(6):703-13. doi: 10.1016/j.ajhg.2008.10.020. Epub 2008, Nov 13. PMID:19012874 doi:10.1016/j.ajhg.2008.10.020

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