Ubiquitin-protein ligase E3A (UBE3A) also known as E6AP ubiquitin-protein ligase (E6AP) is an enzyme that in humans is encoded by the UBE3A gene. This enzyme is...
13 KB (1,508 words) - 10:38, 21 December 2023
than one inherited. Most often it is due to a deletion or mutation of the UBE3A gene on that chromosome. Occasionally it is due to the inheritance of two...
38 KB (4,094 words) - 12:28, 20 September 2024
UBE3A-ATS/Ube3a-ATS (human/mouse), otherwise known as ubiquitin ligase E3A-ATS, is the name for the antisense DNA strand that is transcribed as part of...
23 KB (2,858 words) - 11:13, 28 March 2024
conjugating enzyme e2 q2 UBE3A: ubiquitin protein ligase E3A (human papilloma virus E6-associated protein, Angelman syndrome) Ube3a-ATS: UNC13C: encoding...
34 KB (3,031 words) - 03:36, 10 March 2024
protein ligase E3A. UBE3A is expressed in most body tissues. However, in neurons only the maternal copy of the gene is expressed. UBE3A is located on chromosome...
17 KB (1,503 words) - 00:15, 27 August 2024
likely involved in the etiology of Dup15q syndrome include UBE3A, GABRA5, GABRB3, and GABRG3. UBE3A is a ubiquitin-protein ligase that is involved in targeting...
9 KB (1,126 words) - 05:52, 5 August 2024
E6 (purple), as obtained by X-ray crystallography, shown bound to the LxxLL peptide motif of the human protein UBE3A (cyan). Rendered from PDB: 4GIZ....
146 KB (16,011 words) - 22:07, 8 August 2024
neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3". Human Molecular Genetics. 14 (4): 483–492. doi:10.1093/hmg/ddi045...
45 KB (4,629 words) - 10:26, 26 September 2024
within this region on the paternal chromosome, loss of a different gene (UBE3A) within the same region on the maternal chromosome causes AS. PWS and AS...
38 KB (3,969 words) - 16:06, 5 September 2024
tumours in multiple organs, epilepsy Angelman's syndrome Monogenic disorder: UBE3A 15 34.0% (24.0–37.0) Cheerful demeanour, microcephaly, epilepsy, speech...
17 KB (1,194 words) - 12:27, 26 September 2024