2cxk
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proteopedia linkproteopedia linkCrystal structure of the TIG domain of human calmodulin-binding transcription activator 1 (CAMTA1)
Structural highlights
DiseaseCMTA1_HUMAN Defects in CAMTA1 are the cause of cerebellar ataxia, non-progressive, with mental retardation (CANPMR) [MIM:614756. A neurodevelopmental disorder characterized by mildly delayed psychomotor development, early onset of cerebellar ataxia, and intellectual disability later in childhood and adult life. Other features may include neonatal hypotonia, dysarthria, and dysmetria. Brain imaging in some patients shows cerebellar atrophy. Dysmorphic facial features are variable.[1] FunctionCMTA1_HUMAN Transcriptional activator. May act as a tumor suppressor.[2] [3] 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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