2cry | pdb_00002cry
From Proteopedia
Solution structure of the fifth ig-like domain of human kin of IRRE like 3
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Structural highlights
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). Evolutionary Conservation![]() Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf. References
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This page was last modified 14:07, 11 September 2015.