UBE3A KO cell line available to order. KO validated by Next Generation Sequencing. Free of charge wild type control provided.
UBE3A KO cell line available to order. KO validated by Next Generation Sequencing. Free of charge wild type control provided.
Recommended control: Human wild-type U-87 MG cell line (ab278079). Please note a wild-type cell line is not automatically included with a knockout cell line order, if required please add recommended wild-type cell line at no additional cost using the code WILDTYPE-TMTK1.
This product is subject to limited use licenses from The Broad Institute and ERS Genomics Limited, and is developed with patented technology. For full details of the limited use licenses and relevant patents please refer to our limited use license and patent pages.
UBE3A also known as ubiquitin protein ligase E3A is an enzyme with a molecular mass of approximately 100 kDa. It plays a central role in the ubiquitination process by adding ubiquitin to specific substrate proteins. UBE3A is found in many tissues but has high expression levels in the brain especially in neurons. The proper function of UBE3A requires its interaction with the ubiquitin-conjugating enzyme E2 marking target proteins for proteasomal degradation or other cellular processes.
The role of UBE3A is connected to protein homeostasis and turnover. It is part of the ubiquitin-proteasome system which regulates the degradation of damaged or unneeded proteins. UBE3A does not work alone; it functions as part of a larger E3 ligase complex. This complex selectively identifies and modifies proteins determining their fate within the cell. The precision of UBE3A in these processes is necessary for normal neural development and synaptic plasticity.
UBE3A is involved in the synaptic transmission and neuronal signaling pathways. It interacts with proteins such as HERC2 and RAD18 which are involved in DNA damage response and repair. UBE3A's involvement in these pathways highlights its importance in maintaining neuronal health. This protein’s activity influences downstream signaling events affecting processes like synaptic function and neuronal communication.
Disruptions in UBE3A activity link to Angelman syndrome and autism spectrum disorders. Angelman syndrome results from the loss of function of the maternal UBE3A gene leading to severe neurological impairments. UBE3A's relationship with proteins like MECP2 involved in gene regulation suggests a broader role in neurodevelopmental disorders. Research continues to explore how UBE3A and its interaction partners contribute to the underlying mechanisms of these diseases.
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62 bp deletion (allele 1), 170 bp insertion and 169 bp deletion (allele 2) in exon 3, CCDS45191.1
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