2cry
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Solution structure of the fifth ig-like domain of human kin of IRRE like 3
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Structural highlights
DiseaseKIRR3_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] FunctionKIRR3_HUMAN Could be involved in the hematopoietic supportive capacity of stroma cells (By similarity). Evolutionary ConservationCheck, 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 11:29, 22 May 2024.