WebApr 3, 2024 · Mutations in MAPK8IP3 (JNKinteracting protein 3) cause neurodevelopmental disorder with or without variable brain abnormalities, where short stature, facial dysmorphism including low-set ears ... WebMapk8ip3 Gene Detail Summary Symbol Mapk8ip3 Name mitogen-activated protein kinase 8 interacting protein 3 Synonyms c-Jun NH2-terminal kinase (JNK)/stress-activated …

Entry - #618443 - NEURODEVELOPMENTAL …

WebIn the autumn of 2024, we learned that Liv has the gene mutation MAPK8IP3 – which is the reason why Liv is Liv and has the challenges but also the unique resources to be who she is. When Liv was about 6 months old, we started to get concerned about her development. WebC-jun-amino-terminal kinase-interacting protein 3 is an enzyme that in humans is encoded by the MAPK8IP3 gene. [5] [6] [7] The protein encoded by this gene shares similarity with the product of Drosophila syd gene, required for … fényképek vászonra nyomtatása

ZFIN Gene: mapk8ip3 - Zebrafish Information Network

WebMar 7, 2024 · MAPK8IP3 is a multifunctional neuronal protein that serves as a hub for signal transduction and promotes microtubule-based vesicular trafficking. Human mutations in MAPK8IP3 cause a spectrum of neurodevelopmental disease, including axon guidance defects, developmental delay, impaired intellectual development, and poor speech. WebMar 21, 2024 · MAPK8IP3 (Mitogen-Activated Protein Kinase 8 Interacting Protein 3) is a Protein Coding gene. Diseases associated with MAPK8IP3 include Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities and Non-Specific Syndromic Intellectual Disability . Among its related pathways are ERK Signaling and TGF-Beta … WebIn 13 unrelated patients with NEDBA, Platzer et al. (2024) identified 9 different de novo heterozygous mutations in the MAPK8IP3 gene (see, e.g., 605431.0001-605431.0005). … fényképezőgép állvány