LP33141-0
UBE3A gene
Active
Descriptions
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are rare genetic disorders in which several genes (e.g. SNRPN, UBE3A) on chromosome 15(q11-13) are deleted or unexpressed. Alterations in the PWS/AS region (15q11-13) may occur by several genetic mechanisms, including chance mutation, uniparental disomy, sporadic mutations, chromosome translocations, and gene deletions. PWS and AS are some of the first reported instances of imprinting disorders in humans. In PWS, the maternally inherited copies of genes are virtually silent due to imprinting. Only the paternal copies of the genes are expressed. Therefore, PWS results from the loss of paternal copies of this region. Alternately, AS is caused by deletion or inactivation of genes on the maternally inherited chromosome 15 while the paternal copy, which may be of normal sequence, is imprinted and therefore silenced.
Characteristic features of PWS include diminished fetal activity, obesity, hypotonia, developmental delay, short stature, hypogonadotropic hypogonadism, strabismus, and small hands and feet. AS is characterized by intellectual and developmental disability, sleep disturbance, seizures, jerky movements (especially hand-flapping), frequent laughter or smiling, and usually a happy demeanor.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Prader-Willi Syndrome (PWS) and Angleman Syndrome (AS), Genomic Imprinting
The UBE3A gene (ubiquitin protein ligase E3A) [HGNC Gene ID:12496] is located on chromosome 15q11.2. This gene encodes an E3 ubiquitin-protein ligase, part of the ubiquitin protein degradation system. This imprinted gene is maternally expressed in brain and biallelically expressed in other tissues. Maternally inherited deletion of this gene causes Angelman Syndrome, characterized by severe motor and intellectual retardation, ataxia, hypotonia, epilepsy, absence of speech, and characteristic facies. The protein also interacts with the E6 protein of human papillomavirus types 16 and 18, resulting in ubiquitination and proteolysis of tumor protein p53. Alternative splicing of this gene results in three transcript variants encoding three isoforms with different N-termini. Additional transcript variants have been described, but their full length nature has not been determined. [provided by RefSeq, Jul 2008] [NCBI Gene ID:7337] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Display Name
- UBE3A gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2004-02-10
- Construct for LOINC Short Name
- UBE3A gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP33141-0 - ConceptMap translate
- https:
//fhir.loinc.org/ConceptMap/$translate?system=http: //loinc.org&code=LP33141-0
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | UBE3A 基因 Synonyms: ANCR; |
| et-EE | Estonian (Estonia) | UBE3A geen |
| es-ES | Spanish (Spain) | Gen UBE3A |
| it-IT | Italian (Italy) | UBE3A, gene Synonyms: Gene UBE3A |
| tr-TR | Turkish (Turkey) | UBE3A geni |
| ru-RU | Russian (Russian Federation) | UBE3A ген |
| nl-NL | Dutch (Netherlands) | UBE3A-gen Synonyms: UBE3A gen |
LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright