UBE3A
| Ubiquitin protein ligase E3A | |||||||
|---|---|---|---|---|---|---|---|
| Identifiers | |||||||
| Symbol | ? | ||||||
| NCBI gene | 7337 | ||||||
| HGNC | 12487 | ||||||
| OMIM | 601623 | ||||||
| RefSeq | NM_130838 | ||||||
| UniProt | Q05086 | ||||||
| |||||||
UBE3A (Ubiquitin Protein Ligase E3A) is a gene that encodes an enzyme involved in the ubiquitin-proteasome system, which is crucial for protein degradation and regulation within the cell. This gene is located on chromosome 15q11-q13 and is known for its role in Angelman syndrome, a neurogenetic disorder.
Function[edit | edit source]
UBE3A encodes an E3 ubiquitin ligase, which is part of the ubiquitin-proteasome pathway. This pathway is responsible for tagging proteins with ubiquitin molecules, marking them for degradation by the proteasome. The UBE3A protein specifically interacts with the E6 protein of human papillomavirus (HPV) and targets the tumor suppressor protein p53 for degradation, highlighting its role in cellular processes such as cell cycle regulation and apoptosis.
Genomic Imprinting[edit | edit source]
UBE3A is subject to genomic imprinting, a genetic phenomenon where only one allele of a gene is expressed while the other is silenced. In most tissues, UBE3A is expressed from both the maternal and paternal alleles. However, in neurons, only the maternal allele is active, while the paternal allele is silenced. This parent-specific expression is crucial for normal neurological function.
Clinical Significance[edit | edit source]
Mutations or deletions in the UBE3A gene can lead to Angelman syndrome, a condition characterized by severe developmental delays, speech impairment, movement disorders, and a unique behavioral phenotype. The loss of function of the maternal allele in neurons is primarily responsible for the symptoms of Angelman syndrome.
UBE3A is also implicated in other neurological disorders, such as autism spectrum disorder (ASD) and Prader-Willi syndrome, due to its location in the 15q11-q13 region, which is prone to genetic alterations.
Research and Therapeutic Approaches[edit | edit source]
Current research is focused on understanding the precise mechanisms by which UBE3A mutations lead to Angelman syndrome and other disorders. Therapeutic strategies are being developed to reactivate the silenced paternal allele of UBE3A in neurons, which could potentially alleviate the symptoms of Angelman syndrome.
Also see[edit | edit source]
- Angelman syndrome
- Genomic imprinting
- Ubiquitin-proteasome system
- Autism spectrum disorder
- Prader-Willi syndrome
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