2023年6月15日 · KAT6A syndrome is an extremely rare genetic neurodevelopmental disorder in which there is a variation (mutation) in the KAT6A gene. Variations in the KAT6A gene can potentially cause a wide variety of signs and symptoms; how the disorder affects one child can be very different from how it affects another.

KAT6A syndrome, also known as Arboleda-Tham Syndrome (ARTHS), is a rare disorder resulting from a mutation in the KAT6A gene. Through genetic research, we have learned that the KAT6A gene makes the KAT6A protein.

2024年12月25日 · KAT6A (Lysine Acetyltransferase 6A) is a Protein Coding gene. Diseases associated with KAT6A include Arboleda-Tham Syndrome and Syndromic Intellectual Disability. Among its related pathways are Gene expression (Transcription) and Chromatin organization.

What is KAT6A syndrome? KAT6A syndrome is a rare genetic condition that results from ‘spelling mistakes’ (aka mutations) in a gene called KAT6A. (The KAT6A gene is located on the short arm (p) of chromosome 8 within band 8p11.21). What are genes and chromosomes?

Studying KAT6A and KAT6B gene function will increase our overall knowledge of multiple systems in the body to unlock the possibility for greater health for all. Children with KAT6 syndromes will carry a wide range of challenges as every case is unique.

The KAT6 Foundation supports people and their families who are living with KAT6A and KAT6B syndromes around the world. We advance scientific research aimed at developing treatments and spread awareness of KAT6 syndromes so they can be more easily identified, treated and studied.

In the current review, we discuss the physiological functions of the acetyltransferases KAT6A and KAT6B as well as their functions under pathological conditions of aberrant expression, leading to several developmental syndromes and cancer.

Our data expand the genotypic and phenotypic spectrum for individuals with genetic pathogenic variants in KAT6A and we outline appropriate clinical management.

2018年8月1日 · Here we present highly potent, selective inhibitors of KAT6A and KAT6B, denoted WM-8014 and WM-1119. Biochemical and structural studies demonstrate that these compounds are reversible...

Our study showed that KAT6A is overexpressed in ovarian cancer and associated with prognosis. Moreover, KAT6A, acting as a regulator of β-catenin, promotes the proliferation, invasion and metastasis of ovarian cancer cells and endows them with resistance to platinum-based chemotherapeutics by acetylating constitutive photomorphogenic 1 (COP1).