Human Histone Acetyltransferase MYST4 (MYST4) ELISA Kit | MYST4 elisa kit
Human Histone Acetyltransferase MYST4 (MYST4) ELISA Kit
* Allow all reagents to warm to room temperature for at least 30 minutes before opening.
* Pre-rinse the pipet tip with reagent, use fresh pipet tips for each sample, standard and reagent to avoid contamination.
* Unused wells must be kept desiccated at 4 degree C in the sealed bag provided.
* Mix Thoroughly is very important for the result. It is recommended using low frequency oscillator or slight hand shaking every 10 minutes.
* It is recommended that all samples and standards be assayed in duplicate or triplicate.
Background: The protein encoded by MYST4 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 MYST4.
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 MYST4
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Product Notes
The Human MYST4 kat6b (Catalog #AAA9715067) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9715067 ELISA Kit recognizes Human MYST4. It is sometimes possible for the material contained within the vial of "Histone Acetyltransferase MYST4 (MYST4), ELISA Kit" 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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