| Structural highlights
Disease
[CMTA1_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]
Function
[CMTA1_HUMAN] Transcriptional activator. May act as a tumor suppressor.[2] [3]
Evolutionary Conservation
Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf.
References
- ↑ Thevenon J, Lopez E, Keren B, Heron D, Mignot C, Altuzarra C, Beri-Dexheimer M, Bonnet C, Magnin E, Burglen L, Minot D, Vigneron J, Morle S, Anheim M, Charles P, Brice A, Gallagher L, Amiel J, Haffen E, Mach C, Depienne C, Doummar D, Bonnet M, Duplomb L, Carmignac V, Callier P, Marle N, Mosca-Boidron AL, Roze V, Aral B, Razavi F, Jonveaux P, Faivre L, Thauvin-Robinet C. Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability. J Med Genet. 2012 Jun;49(6):400-8. doi: 10.1136/jmedgenet-2012-100856. PMID:22693284 doi:10.1136/jmedgenet-2012-100856
- ↑ Bouche N, Scharlat A, Snedden W, Bouchez D, Fromm H. A novel family of calmodulin-binding transcription activators in multicellular organisms. J Biol Chem. 2002 Jun 14;277(24):21851-61. Epub 2002 Mar 29. PMID:11925432 doi:10.1074/jbc.M200268200
- ↑ Barbashina V, Salazar P, Holland EC, Rosenblum MK, Ladanyi M. Allelic losses at 1p36 and 19q13 in gliomas: correlation with histologic classification, definition of a 150-kb minimal deleted region on 1p36, and evaluation of CAMTA1 as a candidate tumor suppressor gene. Clin Cancer Res. 2005 Feb 1;11(3):1119-28. PMID:15709179
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