Normal Function
The UBR7 gene provides instructions for making an enzyme that is part of the UBR family. Proteins and enzymes in this family are all involved in a process that helps cells get rid of unwanted proteins. This process is known as the ubiquitin-proteasome system. The ubiquitin-proteasome system acts as the cell's quality control system by disposing of damaged, misshapen, and excess proteins. By breaking down proteins at the right time, this system regulates the timing of critical cell activities, such as cell growth and division.
The UBR7 enzyme acts as an E3 ubiquitin ligase. The UBR7 enzyme is involved in part of the ubiquitin-proteasome system known as the N-end rule pathway. The N-end rule pathway helps determine when a protein needs to be broken down based on the protein building blocks (amino acids) at the end of the protein sequence. When the proteins are no longer needed, E3 ubiquitin ligase enzymes like UBR7 recognize these amino acids and use them to flag the protein for breakdown.
The UBR7 enzyme is thought to play an important role in regulating proteins during development before birth. In particular, the UBR7 enzyme may be involved in the Notch signaling pathway, which controls how certain types of cells develop before birth, including those that form the bones, heart, muscles, nerves, and blood vessels.
Health Conditions Related to Genetic Changes
Li-Campeau syndrome
Genetic changes in the UBR7 gene cause a condition called Li-Campeau syndrome. These changes are called pathogenic variants. Li-Campeau syndrome is a condition that affects neurological and physical development and is characterized by intellectual disabilities, recurrent seizures (epilepsy), reduced thyroid function (hypothyroidism), genital anomalies, and heart defects that are present from birth (congenital heart defects).
Pathogenic variants in the UBR7 gene prevent cells from making functional UBR7 enzymes. While it is unclear exactly how the loss of normal UBR7 enzymes leads to the signs and symptoms of Li-Campeau syndrome, it is possible that disruptions in Notch signaling before birth may lead to the developmental problems seen in people with Li-Campeau syndrome.
More About This Health ConditionOther Names for This Gene
- C14orf130
- chromosome 14 open reading frame 130
- ubiquitin protein ligase E3 component n-recognin 7 (putative)
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Edizadeh M, Kaymakcalan H, Valilou SF, Sahin Y. Eighth case of Li-Campeau syndrome in a Turkish patient caused by a novel pathogenic variant in UBR7 and expanding the phenotype. Am J Med Genet A. 2023 May;191(5):1465-1469. doi: 10.1002/ajmg.a.63146. Epub 2023 Feb 9. Citation on PubMed
- Li B, Zhou Y, Che F, Zhou R, Mo L, Zhang L, Wang G, Yang Y. Establishment of a novel human induced pluripotent stem cell line (SIPDi001-A) with compound heterozygous mutations in the UBR7 gene from a Li-Campeau syndrome patient. Stem Cell Res. 2023 Sep;71:103165. doi: 10.1016/j.scr.2023.103165. Epub 2023 Jul 9. Citation on PubMed
- Li C, Beauregard-Lacroix E, Kondratev C, Rousseau J, Heo AJ, Neas K, Graham BH, Rosenfeld JA, Bacino CA, Wagner M, Wenzel M, Al Mutairi F, Al Deiab H, Gleeson JG, Stanley V, Zaki MS, Kwon YT, Leroux MR, Campeau PM. UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism. Am J Hum Genet. 2021 Jan 7;108(1):134-147. doi: 10.1016/j.ajhg.2020.11.018. Epub 2020 Dec 18. Citation on PubMed
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