NP_001243397.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
231,378 Da
NCBI Official Full Name
histone acetyltransferase KAT6B isoform 2
NCBI Official Synonym Full Names
K(lysine) acetyltransferase 6B
NCBI Official Synonym Symbols
qkf; MORF; MOZ2; GTPTS; MYST4; ZC2HC6B; querkopf [Similar Products]
NCBI Protein Information
histone acetyltransferase KAT6B; MYST-4; MOZ-related factor; histone acetyltransferase MORF; histone acetyltransferase MOZ2; histone acetyltransferase MYST4; MOZ, YBF2/SAS3, SAS2 and TIP60 protein 4; MYST histone acetyltransferase (monocytic leukemia) 4; monocytic leukemia zinc finger protein-related factor
UniProt Protein Name
Histone acetyltransferase KAT6B
UniProt Synonym Protein Names
Histone acetyltransferase MOZ2; MOZ, YBF2/SAS3, SAS2 and TIP60 protein 4; MYST-4; Monocytic leukemia zinc finger protein-related factor
UniProt Synonym Gene Names
UniProt Entry Name
KAT6B_HUMAN
NCBI Summary for MYST4
The protein encoded by this gene is a histone acetyltransferase and component of the MOZ/MORF protein complex. In addition to its acetyltransferase activity, the encoded protein has transcriptional activation activity in its N-terminal end and transcriptional repression activity in its C-terminal end. This protein is necessary for RUNX2-dependent transcriptional activation and could be involved in brain development. Mutations have been found in patients with genitopatellar syndrome. A translocation of this gene and the CREBBP gene results in acute myeloid leukemias. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]
UniProt Comments for MYST4
MYST4: Histone acetyltransferase which may be involved in both positive and negative regulation of transcription. Required for RUNX2-dependent transcriptional activation. May be involved in cerebral cortex development. Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity. A chromosomal aberration involving KAT6B may be a cause acute myeloid leukemias. Translocation t(10;16)(q22;p13) with CREBBP. Defects in KAT6B are a cause of Ohdo syndrome, SBBYS variant (SBBYSS). SBBYSS is a syndrome characterized by distinctive facial appearance with severe blepharophimosis, an immobile mask-like face, a bulbous nasal tip, and a small mouth with a thin upper lip. The condition presents in infancy with severe hypotonia and feeding problems. Associated skeletal problems include joint laxity, abnormally long thumbs and great toes, and dislocated or hypoplastic patellae. Structural cardiac defects are present in around 50% of cases, and dental anomalies, including small and pointed teeth, are common. Many affected individuals have abnormalities of thyroid structure or function. SBBYSS is usually associated with severe mental retardation, delayed motor milestones, and significantly impaired speech. Defects in KAT6B are a cause of genitopatellar syndrome (GTPTS). GTPTS is a rare disorder consisting of microcephaly, severe psychomotor retardation, and characteristic coarse facial features, including broad nose and small or retracted chin, associated with congenital flexion contractures of the lower extremities, abnormal or missing patellae, and urogenital anomalies. Belongs to the MYST (SAS/MOZ) family. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: EC 2.3.1.48; Acetyltransferase
Chromosomal Location of Human Ortholog: 10q22.2
Cellular Component: nucleoplasm; nucleosome; nucleus
Molecular Function: protein binding; histone acetyltransferase activity; DNA binding; zinc ion binding; acetyltransferase activity; transcription factor binding
Biological Process: nucleosome assembly; establishment and/or maintenance of chromatin architecture; regulation of transcription, DNA-dependent; transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; histone acetylation; negative regulation of transcription, DNA-dependent
Disease: Genitopatellar Syndrome; Ohdo Syndrome, Sbbys Variant
Research Articles on MYST4
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Diseases associated with MYST4 elisa kit
Disease Name |
Pubmed Publications |
Leukemia Antibodies |
>6 publications with MYST4 and Leukemia |
Nervous System Diseases Antibodies |
>4 publications with MYST4 and Nervous System Diseases |
Neoplasms Antibodies |
>3 publications with MYST4 and Neoplasms |
Chromosome Aberrations Antibodies |
>2 publications with MYST4 and Chromosome Aberrations |
Eyelid Diseases Antibodies |
>2 publications with MYST4 and Eyelid Diseases |
Leukemia, Monocytic, Acute Antibodies |
>2 publications with MYST4 and Leukemia, Monocytic, Acute |
Leukemia, Myeloid, Acute Antibodies |
>2 publications with MYST4 and Leukemia, Myeloid, Acute |
Leukemia, Myeloid Antibodies |
>2 publications with MYST4 and Leukemia, Myeloid |
Death Antibodies |
>1 publications with MYST4 and Death |
Leiomyoma Antibodies |
>1 publications with MYST4 and Leiomyoma |
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