For optimal storage, aliquot target into smaller quantities after centrifugation and store at recommended temperature.
For most favorable performance, avoid repeated handling and multiple freeze/thaw cycles.
Scientific Background: KAT6B is the catalytic subunit of the histone acetyltransferase (HAT) elongator complex, which is ubiquitously expressed in adult human tissues. KAT6B is a 1,781aa-residue protein that contains a strong transcriptional repression domain at its N terminus and a highly potent activation domain at its C terminus (1). These domains of KAT6B may be involved in both positive and negative regulation of transcription and also involved in cerebral cortex development. KAT6B is important for cellular aging, proliferation, positive and negative transcriptional regulation and DNA damage repair (2).
NCBI and Uniprot Product Information
NCBI Description
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 Description
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: Acetyltransferase; EC 2.3.1.48
Chromosomal Location of Human Ortholog: 10q22.2
Cellular Component: nucleoplasm; nucleus
Molecular Function: acetyltransferase activity; histone acetyltransferase activity; protein binding; transcription factor binding
Biological Process: histone acetylation; negative regulation of transcription, DNA-dependent; positive regulation of transcription, DNA-dependent
Disease: Genitopatellar Syndrome; Ohdo Syndrome, Sbbys Variant
Research Articles on KAT6B
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Product Notes
The KAT6B kat6b (Catalog #AAA515521) is a Recombinant Protein produced from Sf9 insect cells using baculovirus and is intended for research purposes only. The product is available for immediate purchase. The immunogen sequence is 431-end. AAA Biotech's KAT6B can be used in a range of immunoassay formats including, but not limited to, Acetyltransferase Assay. Researchers should empirically determine the suitability of the KAT6B kat6b for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. It is sometimes possible for the material contained within the vial of "KAT6B, Recombinant Protein" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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