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Ovarian Kaleidoscope Database (OKdb)

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lysine acetyltransferase 6A OKDB#: 5479
 Symbols: KAT6A Species: human
 Synonyms: MOZ, MRD32, MYST3, MYST-3, ZNF220, RUNXBP2, ZC2HC6A  Locus: 8p11.21 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment NCBI 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. [provided by RefSeq, Jul 2017]
General function Enzyme
Comment
Cellular localization Cytoplasmic
Comment
Ovarian function
Comment
Expression regulated by
Comment
Ovarian localization
Comment
Follicle stages
Comment
Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
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created: July 25, 2017, 1:27 p.m. by: system   email:
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last update: July 25, 2017, 1:28 p.m. by: hsueh    email:



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