Lysine Acetyltransferase 6A

Alternative Names

  • KAT6A
  • Histone Acetyltransferase MYST3
  • MYST3
  • Zinc Finger Protein 220
  • ZNF220
  • Monocytic Leukemia Zinc Finger Protein
  • MOZ
  • MOZ/CBP Fusion Gene
  • MOZ/TIF2 Fusion Gene

Associated Diseases

Arboleda-Tham Syndrome
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OMIM Number

601408

NCBI Gene ID

7994

Uniprot ID

Q92794

Length

122,510 bases

No. of Exons

19

No. of isoforms

1

Protein Name

Histone acetyltransferase KAT6A

Molecular Mass

225028 Da

Amino Acid Count

2004

Genomic Location

chr8:41,929,478-42,051,987

Gene Map Locus
8p11.21

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001305878.1:c.2378delUnited Arab EmiratesNC_000008.11:g.41942851delLikely PathogenicArboleda-Tham SyndromeNG_042093.1:g.114175del; NM_001305878.1:c.2378del; NP_001292807.1:p.Glu793GlyfsTer17
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