Reference for KAT6A. Search for KAT6A

AI searches containing KAT6A

KAT6A

KAT6A

Protein-coding gene in the species Homo sapiens

acetyltransferase 6A (KAT6A), is an enzyme that, in humans, is encoded by the KAT6A gene. This gene is located on human chromosome 8, band 8p11.21. The KAT6A protein

KAT6A

Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome

Medical condition

viral infections. This condition is caused by heterozygous mutations in the KAT6A gene, in chromosome 8. These mutations are often sporadic, and are either

Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome

Autosomal_dominant_intellectual_disability-craniofacial_anomalies-cardiac_defects_syndrome

Prifetrastat

Investigational drug

a first-in-class selective inhibitor of the histone acetyltransferases KAT6A and KAT6B, enzymes that regulate gene transcription through histone acetylation

Prifetrastat

List of genetic disorders

dysfunction–cholestasis syndrome VPS33B 1:78,000,000 Arboleda-Tham Syndrome KAT6A(8p11.21) Dominant Ataxia telangiectasia ATM 1:40,000-1,000,000 Axenfeld

List of genetic disorders

List_of_genetic_disorders

Papillary hidradenoma

Medical condition

RNF213, FLCN, PDGFRB, AR (i.e. the androgen receptor gene), BTK, MLL3, KAT6A, BRD3, EP400, TET2, IL6, and IL7R. The PI3K/AKT/mTOR pathway promotes the

Papillary hidradenoma

Papillary_hidradenoma

Wendy Chung

American geneticist

associated with neurodevelopment disabilities and autism, including NR4A2, KAT6A, PPP2R5D, CSNK2A1, PHIP, CDC42BPB, TKT, DHPS, PRUNE, EMC1, AHDC1, POGZ,

Wendy Chung

Wendy_Chung

List of human protein-coding genes 4

HGNC:4201; Q92830 7942 KAT2B HGNC:8638; Q92831 7943 KAT5 HGNC:5275; Q92993 7944 KAT6A HGNC:13013; Q92794 7945 KAT6B HGNC:17582; Q8WYB5 7946 KAT7 HGNC:17016; O95251

List of human protein-coding genes 4

List_of_human_protein-coding_genes_4