UBE3B Antibody

1. we present four patients with five novel UBE3B mutations and propose the inclusion of clinical features to the characteristics of Kaufman oculocerebrofacial syndrome, including prominence of the cheeks and limb anomalies. PMID: 29160006
2. studies demonstrate that UBE3B is an E3 ubiquitin ligase and reveal that the enzyme is regulated by calmodulin. Furthermore, the modulation of UBE3B via calmodulin and calcium implicates a role for calcium signaling in mitochondrial protein ubiquitylation, protein turnover, and disease PMID: 28003368
3. Sanger sequencing was negative for the DOORS syndrome gene TBC1D24 but exome sequencing identified a homozygous deletion in UBE3B (NM_183415:c.3139_3141del, p.1047_1047del) located within the terminal portion of the HECT domain PMID: 28003643
4. The E3 ligase activity of UBE3B is regulated by its interaction with calmodulin via the N-terminal IQ domain. PMID: 28003368
5. UBE3B encodes a widely expressed protein ubiquitin ligase E3B, which, when mutated in both alleles, causes Kaufman oculocerebrofacial syndrome. PMID: 25691420
6. UBE3B mutations cause a clinically recognizable and possibly underdiagnosed syndrome named the Kaufman oculocerebrofacial syndrome PMID: 24615390
7. data provide evidence that Kaufman oculocerebrofacial syndrome is caused by UBE3B loss of function, and further demonstrate the impact of misregulation of protein ubiquitination on development and growth. PMID: 23687348
8. Our data reveal the pleiotropic effects of UBE3B deficiency and reinforce the physiological importance of ubiquitination in neuronal development and function in mammals. PMID: 23200864
9. UBE3B is a novel E3 ligase, with a HECT-domain which constitutes the active site for ubiquitin transfer PMID: 12837265
10. the apparent occurrence of an unusual TG 3' splice site in intron 25 is discussed PMID: 17672918

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HGNC: 13478

OMIM: 244450

KEGG: hsa:89910

STRING: 9606.ENSP00000340596

UniGene: Hs.374067