2017年8月10日 · TRIO-related neurodevelopmental disorder (TRIO-NDD) is characterized by two phenotypes: TRIO-NDD due to gain-of-function variants and TRIO-NDD due to loss-of-function variants.

2025年3月30日 · TRIO (Trio Rho Guanine Nucleotide Exchange Factor) is a Protein Coding gene. Diseases associated with TRIO include Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly and Intellectual Developmental Disorder, Autosomal Dominant 63, …

What is TRIO Gene? TRIO ( Trio Rho Guanine Nucleotide Exchange Factor ) is a Protein coding gene. TRIO is located on the fifth chromosome, band 5p15.2 and codes for a protein that has many functions.

Triple functional domain protein is a protein that in humans is encoded by the TRIO gene. [5] [6]

2023年3月23日 · Genetic counseling: TRIO-NDD is an autosomal dominant disorder. The majority of individuals diagnosed with TRIO-NDD have the disorder as a result of a de novo pathogenic variant; approximately 15% inherited the TRIO pathogenic variant from an affected parent.

The TRIO protein contains 3 functional domains: a serine/threonine kinase domain and 2 guanine nucleotide exchange factor (GEF) domains for the family of Rho-like GTPases, specific for Rac1 (602048) and RhoA (165390), respectively (Debant et al., 1996).

Because the TRIO gene is important in the development and function of brain cells, many people who have TRIO-related syndrome have: Intellectual disability. Motor and language delays. Behavior issues, such as autism. What causes TRIO-related syndrome? Our genes contain the instructions, or code, that tell our cells how to grow, develop, and work.

2023年1月30日 · In summary, by combining clinical, molecular, cellular and in vivo data, we provide compelling new evidence for the pathogenicity of novel genetic variants targeting the TRIO gene in NDDs.

TRIO-related syndrome happens when there are changes to the TRIO gene. Learn more about TRIO and connect with other Simons Searchlight families with the resources on this page.

2021年2月10日 · Recent discoveries have linked Trio and kalirin to human disease, including neurological disorders and cancer. The genes for Trio family proteins encode a series of large multidomain proteins with up to three catalytic activities and multiple scaffolding and protein-protein interaction domains.