Taxon:

Human

Gene:

UBE3A

Chromosome:

15

Location:

15q11-q13 (10)

Description:

UBE3A (ubiquitin protein ligase E3A) is maternally expressed in human and mouse brain, but is biallelically expressed in other tissues. This gene is mutated in some cases of Angelman syndrome, deleted in others (60-70%), and affected by paternal UPD in others (Rougeulle C et al, 1997; Vu TH et al, 1997). UBE3A has a downstream transcript which shows predominant maternal expression (Rougeulle C et al, 1998).
Morcos L et al (2011) found no evidence of allelic expression bias in lymphoblast and fibroblast cell lines.
UBE3A antisense transcript (UBE3A-ATS) is thought to control the imprinting of UBE3A (Martins-Taylor K et al, 2014).

Category:

Imprinted genes

Record:

52

Last Modified 2/10/2017

Links:

Gene  


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