2017年8月10日 · TRIO encodes the triple functional domain protein (TRIO) consisting of several domains, notably an N-terminal SEC14 domain, several spectrin repeats, two Dbl-homology-Pleckstrin-homology (DH-PH) Rho-guanine exchange factor (GEF) domains, and a C-terminal serine/threonine kinase domain.

2024年12月25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, With Macrocephaly.

"Trio amino-terminal guanine nucleotide exchange factor domain expression promotes actin cytoskeleton reorganization, cell migration and anchorage-independent cell growth".

A mutation on the TRIO Gene can be found with Genetic Testing. This tiny genetic difference has wide-reaching implications for a person’s physical, cognitive, and emotional well-being.

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).

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.

Trio proteins are key regulators of cell morphogenesis and migration, tissue organization, and secretion and protein trafficking in many biological contexts. Recent discoveries have linked Trio and kalirin to human disease, including neurological disorders and cancer.

What causes TRIO-related syndrome? Our genes contain the instructions, or code, that tell our cells how to grow, develop, and work. Every child gets two copies of the TRIO gene: one copy from their mother, from the egg, and one copy from their father, from the sperm. In most cases, parents pass on exact copies of the gene to their child.