Version 2.78

Part Descriptions

LP33141-0   UBE3A gene
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

LP33141-0   UBE3A gene
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

Fully-Specified Name

Component
UBE3A gene targeted mutation analysis
Property
Prid
Time
Pt
System
Bld
Scale
Nom
Method
Molgen

Additional Names

Short Name
UBE3A gene Mut Anl Bld
Display Name
UBE3A gene targeted mutation analysis Molgen Nom (Bld)
Consumer Name Alpha Get Info
UBE3A gene targeted mutation analysis, Blood

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.13
Last Updated
Version 2.63
Change Reason
Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section.
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-AR Spanish (Argentina) gen UBE3A:presencia o identidad:punto en el tiempo:sangre:Nominal:genética molecular
es-ES Spanish (Spain) Gen UBE3A Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre:Nom:Genética molecular
es-MX Spanish (Mexico) Análisis de mutaciones dirigidas al gen UBE3A:Presencia o identidad:Punto temporal:Sangre:Nominal:Genética molecular
fr-FR French (France) UBE3A gène mutation cible trouvée:Identification:Ponctuel:Sang:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) UBE3A, gene analisi di mutazione mirata:Prid:Pt:Sangue:Nom:Molgen
Synonyms: Gene UBE3A Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue
ko-KR Korean (Korea, Republic Of) UBE3A 유전자 돌연변이 분석:존재:검사시점:전혈:명칭결과:분자유전
nl-NL Dutch (Netherlands) UBE3A-gen doelgerichte mutatie-analyse:identificator:moment:bloed:nominaal:moleculair genetisch onderzoek
Synonyms: molgen targeted UBE3A gen
pt-BR Portuguese (Brazil) UBE3A análise de mutação genética:Ident:Pt:SgTotal:Nom:Genética molecular
Synonyms: ANCR; AS; E6-AP; E6AP; EPVE6AP; HPVE6A; Angelman syndrome; CTCL tumor antigen se37-2; human papilloma virus E6-associated protein; oncogenic protein-associated protein E6-AP; Ubiquitin-protein ligase E3A; Identity or presence; Point in time; Random; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) UBE3A ген исследование на мутацию:ПрИд:ТчкВрм:Кр:Ном:МолГен
Synonyms: Кровь Номинальный;Именной Присутствие или Идентификация Точка во времени;Момент
tr-TR Turkish (Turkey) UBE3A geni Mutasyon analizi:MevcKimlik:Zmlı:Kan:Snf:Molgen
zh-CN Chinese (China) UBE3A 基因 突变分析:存在与否或特征标识:时间点:全血:名义型:分子遗传学类实验室方法
Synonyms: ANCR;Angelman 综合征;AS;CTCL 肿瘤抗原 se37-2;E6AP;E6-AP;EPVE6AP;HPVE6A;人乳头瘤病毒 E6-相关蛋白;人类乳头瘤病毒 E6-相关蛋白;天使人症候群;天使症候群;安吉尔曼综合征;安格尔曼综合征;安格曼症候群;安琪曼症候群;泛素-蛋白质连接酶 E3A;泛素-蛋白连接酶 E3A;癌基因产物相关蛋白 E6-AP;癌蛋白相关蛋白 E6-AP 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 基因突变分析 存在;存在与否;特征标识;身份;身份标识 时刻;随机;随意;瞬间 血;血液 遗传基因;遗传因子;吉恩;生物基因

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