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Normal Function
The UBE3B gene provides instructions for making a protein that plays a role in the ubiquitin-proteasome system, which is the cell machinery that breaks down (degrades) unwanted proteins.
The UBE3B protein is called an E3 ubiquitin ligase. E3 ubiquitin ligases function as part of the ubiquitin-proteasome system by forming part of a protein complex that tags damaged and excess proteins with molecules called ubiquitin. Ubiquitin serves as a signal to specialized cell structures known as proteasomes, which attach (bind) to the tagged proteins and degrade them. The ubiquitin-proteasome system acts as the cell's quality control system by disposing of damaged, misshapen, and excess proteins. This system also regulates the level of proteins involved in several critical cell activities such as the timing of cell division and growth. The specific proteins tagged by complexes involving the UBE3B protein are unknown, but research suggests that the protein functions in the nervous system, digestive tract, respiratory system, and other organs and tissues, from before birth into adulthood.
Health Conditions Related to Genetic Changes
Kaufman oculocerebrofacial syndrome
At least 15 UBE3B gene mutations have been identified in people with Kaufman oculocerebrofacial syndrome, which is a disorder characterized by eye problems (oculo-), severe intellectual disability (-cerebro-), and a distinctive pattern of facial features (-facial). The mutations associated with this disorder are thought to result in an abnormal UBE3B protein that cannot function properly or that is unstable and is rapidly broken down. Loss of this protein's function likely prevents cells from eliminating certain unnecessary proteins, resulting in problems with development and function of the nervous system and other parts of the body.
More About This Health ConditionOther Names for This Gene
- BPIDS
- HECT-type ubiquitin transferase E3B
- KOS
- ubiquitin-protein ligase E3B isoform 1
- ubiquitin-protein ligase E3B isoform 3
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Basel-Vanagaite L, Dallapiccola B, Ramirez-Solis R, Segref A, Thiele H, Edwards A, Arends MJ, Miro X, White JK, Desir J, Abramowicz M, Dentici ML, Lepri F, Hofmann K, Har-Zahav A, Ryder E, Karp NA, Estabel J, Gerdin AK, Podrini C, Ingham NJ, Altmuller J, Nurnberg G, Frommolt P, Abdelhak S, Pasmanik-Chor M, Konen O, Kelley RI, Shohat M, Nurnberg P, Flint J, Steel KP, Hoppe T, Kubisch C, Adams DJ, Borck G. Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. Am J Hum Genet. 2012 Dec 7;91(6):998-1010. doi: 10.1016/j.ajhg.2012.10.011. Epub 2012 Nov 29. Citation on PubMed or Free article on PubMed Central
- Basel-Vanagaite L, Yilmaz R, Tang S, Reuter MS, Rahner N, Grange DK, Mortenson M, Koty P, Feenstra H, Farwell Gonzalez KD, Sticht H, Boddaert N, Desir J, Anyane-Yeboa K, Zweier C, Reis A, Kubisch C, Jewett T, Zeng W, Borck G. Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations. Hum Genet. 2014 Jul;133(7):939-49. doi: 10.1007/s00439-014-1436-2. Epub 2014 Mar 11. Citation on PubMed
- Brabbing-Goldstein D, Basel-Salmon L. Kaufman Oculocerebrofacial Syndrome. 2016 Oct 20 [updated 2022 Jul 28]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from http://www.ncbi.nlm.nih.gov/books/NBK390670/ Citation on PubMed
- Flex E, Ciolfi A, Caputo V, Fodale V, Leoni C, Melis D, Bedeschi MF, Mazzanti L, Pizzuti A, Tartaglia M, Zampino G. Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome. J Med Genet. 2013 Aug;50(8):493-9. doi: 10.1136/jmedgenet-2012-101405. Epub 2013 May 17. Citation on PubMed or Free article on PubMed Central
- Pedurupillay CR, Baroy T, Holmgren A, Blomhoff A, Vigeland MD, Sheng Y, Frengen E, Stromme P, Misceo D. Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B. Am J Med Genet A. 2015 Mar;167A(3):657-63. doi: 10.1002/ajmg.a.36944. Citation on PubMed
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