38919-7

LITAF gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal

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Part Description

LP34971-9 LITAF gene
The LITAF gene (lipopolysaccharide-induced TNF factor) [HGNC Gene ID:16841] is located on chromosome 16p13.13. Lipopolysaccharide is a potent stimulator of monocytes and macrophages, causing secretion of tumor necrosis factor-alpha (TNF-alpha) and other inflammatory mediators. This gene encodes lipopolysaccharide-induced TNF-alpha factor, which is a DNA-binding protein and can mediate the TNF-alpha expression by direct binding to the promoter region of the TNF-alpha gene. The transcription of this gene is induced by tumor suppressor p53 and has been implicated in the p53-induced apoptotic pathway. Mutations in this gene cause Charcot-Marie-Tooth disease type 1C (CMT1C) and may be involved in the carcinogenesis of extramammary Paget's disease (EMPD). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2014] [NCBI Gene ID:9516] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component: LITAF gene targeted mutation analysis
Property: Prid
Time: Pt
System: Bld/Tiss
Scale: Nom
Method: Molgen

Additional Names

Short Name: LITAF gene Mut Anl Bld/T
Display Name: LITAF gene targeted mutation analysis Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info: LITAF gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class: MOLPATH.MUT
Type: Laboratory
First Released: Version 2.15
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-ES	Spanish (Spain)	Gen LITAF Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX	Spanish (Mexico)	Análisis de mutaciones dirigidas al gen LITAF:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR	French (France)	LITAF gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT	Italian (Italy)	LITAF, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen Synonyms: Gene LITAF Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR	Korean (Korea, Republic Of)	LITAF 유전자 돌연변이 분석:존재:검사시점:전혈/조직:명칭결과:분자유전
nl-NL	Dutch (Netherlands)	LITAF-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek Synonyms: LITAF gen molgen targeted
pt-BR	Portuguese (Brazil)	LITAF análise de mutação genética:Ident:Pt:Sg/Tecido:Nom:Genética molecular Synonyms: CMT1C; FLJ38636; PIG7; SIMPLE; TP53I7; LPS-induced TNF-alpha factor; Lipopolysaccharide-induced TNF factor; Small integral membrane protein of lysosome/late endosome; Tumor protein p53 inducible protein 7; Lipopolysaccharide-induced tumor necrosis factor-alpha factor; Charcot-Marie Tooth disease, type 1C; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU	Russian (Russian Federation)	LITAF ген исследование на мутацию:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация Ткань и мазки Точка во времени;Момент
tr-TR	Turkish (Turkey)	LITAF geni Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN	Chinese (China)	LITAF 基因突变分析:存在与否或特征标识:时间点:全血/组织:名义型:分子遗传学类实验室方法 Synonyms: Charcot-Marie Tooth 病, 1C 型;Charcot-Marie-Tooth 病, 1C 型;CMT1C;FLJ38636;LPS 诱导型 TNF 因子;LPS 诱导型 TNF-α因子;LPS 诱导型肿瘤坏死因子-alpha 因子;LPS 诱导型肿瘤坏死因子-α因子;LPS 诱导型肿瘤坏死因子因子;PIG7;SIMPLE;TP53I7;溶酶体/晚期内涵体的小分子完整膜蛋白;溶酶体/晚期吞饮泡的小分子完整膜蛋白;溶酶体/晚期核内体的小分子完整膜蛋白;肿瘤蛋白 p53 可诱导性蛋白 7;脂多全血或组织;血液/组织;血液或组织分子病理学.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;瞬间未作说明的组织;组织;组织 & 涂片血;血液遗传基因;遗传因子;吉恩;生物基因

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