Tanc2
WebAssociated conditions Help. Conditions and phenotypes associated with each gene as reported by OMIM, GeneReviews and Gene. Select item 26115. TANC2. Tests. Intellectual developmental disorder with autistic features and language delay, with or without seizures. IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR ... WebNov 22, 2024 · Rationale: TANC2 is a gene that encodes the TANC2 (tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2) protein–a post-synaptic density interacting scaffold protein. Variants in TANC2 have been associated with neurodevelopmental disorders such as epilepsy, intellectual disability, and autism.
Tanc2
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WebApr 1, 2024 · The TANC2 gene mutations were reported in neurodevelopmental disorders and epilepsy (Guo et al., 2024), but the exact pathogenesis remains unclear. We generated an induced pluripotent stem cell line GWCMCi005-A derived from a LGS patient with pathogenic mutation in TANC2 gene, which would serve as a disease model to investigate … WebNov 1, 2010 · Tanc2 is a large multi‐domain postsynaptic scaffold protein mainly expressed in the brain. In humans, tanc2 mutations have been associated with autism spectrum disorder (ASD) and other related ...
WebSep 10, 2014 · The second fusion, TANC2–PRKCA, encodes only the first two exons of TANC2 (tetratricopeptide repeat, ankyrin repeat and CC containing 2), which contain no annotated structural domain or motif ... WebMar 29, 2024 · TANC2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 Gene ID: 26115, updated on 29-Mar-2024 Gene type: protein coding Also known as: rols; …
WebMar 1, 2024 · Rare tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2)-disrupting variants were disease causing in NDD patients. The post-synaptic … WebDisruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. Guo H , et al. (2024) Yes. Epilepsy/seizures. 1. Support. Diagnostic …
WebConclusion We described the first Chinese case with LGS associated to a de novo nonsense mutation c.4321C > T(p.Gln1441Ter) in TANC2 gene, which would expand the clinical spectrum related to TANC2 ...
Webof TANC2; in addition, our data show that adult patients and carrier parents can present with a more complex series of psy-chiatric and behavioral disorders. The homolog of TANC2 in cna classes in oklahomaWebTanc2 is a large multi-domain postsynaptic scaffold protein mainly expressed in the brain. In humans, tanc2 mutations have been associated with autism spectrum disorder (ASD) and other related neurodevelopmental disorders. However, the role of tanc2 in neurodevelopment and in controlling behaviors a … cahs symposiumWebTANC2: tetratricopeptide repeat, ankyrin repeat and coiled-coil ... 17: 62,966,235 - 63,427,703: 615047: Aliases: IDDALDS, ROLSA, rols: Summary: Predicted to be involved in dense core granule cytoskeletal transport; regulation of dendritic spine development; and regulation of dendritic spine morphogenesis. Predicted to act upstream of or within ... cahs strategic frameworkWebOct 15, 2024 · We find that TANC2 is expressed broadly in the human developing brain, especially in excitatory neurons and glial cells, but shows a more restricted pattern in … cahss ucaWeb17.（3分）如图，在ABC中，sinB」,tanC2,AB=3，贝U AC的长为 32 18.（3分）已知一组数据共有5个数，它们的方差是0.4，众数、中位数和平均数都是8, 最大的数是9，则最小的数是 _. cahs standard 2WebMay 20, 2008 · No disease ID. Defects in TANC2 has been found in a patient with isolated coloboma, a defect of the eye characterized by the absence of ocular structures due to … cahs support servicesWebFunctional Associations. TANC2 has 3,826 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 67 datasets. cahss visiting student office