Gene: KAT6A

Alternate names for this Gene: ARTHS|MOZ|MRD32|MYST-3|MYST3|RUNXBP2|ZC2HC6A|ZNF220

Gene Summary: This gene encodes a member of the MOZ, YBFR2, SAS2, TIP60 family of histone acetyltransferases. The protein is composed of a nuclear localization domain, a double C2H2 zinc finger domain that binds to acetylated histone tails, a histone acetyl-transferase domain, a glutamate/aspartate-rich region, and a serine- and methionine-rich transactivation domain. It is part of a complex that acetylates lysine-9 residues in histone 3, and in addition, it acts as a co-activator for several transcription factors. Allelic variants of this gene are associated with an autosomal dominant form of cognitive disability. Chromosomal translocations of this gene are associated with acute myeloid leukemia. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 8

Location in Chromosome : 8p11.21

Description of this Gene: lysine acetyltransferase 6A

Type of Gene: protein-coding

rs786200952 in KAT6A gene and Bulbous nose PMID 25728777 2015 Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.

rs786200952 in KAT6A gene and Clinodactyly of the 5th finger PMID 25728777 2015 Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.

rs786200952 in KAT6A gene and Craniosynostosis PMID 25728777 2015 Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.

rs786200952 in KAT6A gene and Delayed speech and language development PMID 25728777 2015 Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.

rs786200952 in KAT6A gene and Feeding difficulties PMID 25728777 2015 Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.

rs786200952 in KAT6A gene and Hemangioma PMID 25728777 2015 Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.

rs786200952 in KAT6A gene and Microcephaly (physical finding) PMID 25728777 2015 Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.

rs786200952 in KAT6A gene and Muscle hypotonia PMID 25728777 2015 Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.

rs786200952 in KAT6A gene and Narrow forehead PMID 25728777 2015 Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.

rs786200952 in KAT6A gene and Poor school performance PMID 25728777 2015 Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.

rs786200952 in KAT6A gene and Wide spaced nipples PMID 25728777 2015 Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.

rs786200952 in KAT6A gene and obsolete Abnormal heart morphology PMID 25728777 2015 Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.