57757-7

IKBKG gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal

Active

Part Descriptions

LP97597-6 IKBKG gene
Inhibitor of Kappa Light Polypeptide Gene Enhancer in B Cells Gamma Kinase (IKBKG), also known as NF-Kappa-B Essential Modulator (NEMO), is a protein that is a subunit of the IκB kinase that activates NF-κB, known as Inhibitor of kappa B Kinase (IKK). The gene for IKBKG is located on chromosome Xq28. Multiple transcript variants encoding different isoforms have been found for this gene.

Mutations in the IKBKG gene results in incontinentia pigmenti, hypohidrotic ectodermal dysplasia, and several other types of immunodeficiencies.
Incontinentia Pigmenti (IP) is an X-linked dominant disease caused by a mutation in the IKBKG gene. Since IKBKG helps activate NF-κB, which protects cells against TNF-alpha induced apoptosis, a lack of IKBKG (and hence a lack of active NF-κB) makes cells more prone to apoptosis. 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, Wikipedia

LP97597-6 IKBKG gene
The IKBKG gene (inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma) [HGNC Gene ID:5961] is located on chromosome Xq28. This gene encodes the regulatory subunit of the inhibitor of kappaB kinase (IKK) complex, which activates NF-kappaB resulting in activation of genes involved in inflammation, immunity, cell survival, and other pathways. Mutations in this gene result in incontinentia pigmenti, hypohidrotic ectodermal dysplasia, and several other types of immunodeficiencies. Multiple transcript variants encoding different isoforms have been found for this gene. A pseudogene highly similar to this locus is located in an adjacent region of the X chromosome. [provided by RefSeq, Aug 2011] [NCBI Gene ID:8517] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name: IKBKG gene mutations tested for:Prid:Pt:Bld/Tiss:Nom:Molgen
Long Common Name: IKBKG gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
Short Name: IKBKG gene Mut Tested Bld/T
Display Name: IKBKG gene mutations tested for Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info: IKBKG gene variants tested for, Blood or tissue specimen

Part Model Get Info

Component
IKBKG gene mutations tested for
LP228707-8
- Analyte
  IKBKG gene mutations tested for
  LP228707-8
  - Component Numerator
    IKBKG gene mutations tested for
    LP228707-8
    - Component Numerator Core
      IKBKG gene
      LP97597-6
    - Component Numerator Core Suffix
      mutations tested for
      LP32421-7
  - Component Denominator
    NULL
    - Component Denominator Core
      NULL
    - Component Denominator Core Suffix
      NULL
- Challenge
  NULL
- Adjustment
  NULL
- Count
  NULL
Property
Prid
LP6850-4
Time
Pt
LP6960-1
- Time Core
  Pt
  LP6960-1
- Time Modifier
  NULL
System
Bld/Tiss
LP7061-7
- System Core
  Bld/Tiss
  LP7061-7
- Super System
  NULL
Scale
Nom
LP7750-5
Method
Molgen
LP6404-0

Basic Attributes

Class: MOLPATH.MUT
Type: Laboratory
First Released: Version 2.29
Last Updated: Version 2.29 (MIN)
Order vs. Observation: Observation

Language Variants Get Info

Tag	Language	Translation
cs-CZ	Czech (Czechia)	Gen IKBKG testované mutace:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GR	Greek (Greece)	Γονίδιο IKBKG εξετασθείσες μεταλλάξεις:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική Synonyms: MOLPATH MOLPATH.MUT Nom Prid Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο IKBKG εξετασθείσες μεταλλάξεις εξετασθέν για Ιστός Μεταλλάξεις Μοριακή γενετική
es-ES	Spanish (Spain)	Gen IKBKG Análisis de mutaciones para...:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX	Spanish (Mexico)	Mutaciones del gen IKBKG analizadas para:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR	French (France)	IKBKG gène mutations recherchées:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT	Italian (Italy)	IKBKG, gene, mutazioni testate per:Prid:Pt:Sangue/Tess:Nom:Molgen Synonyms: Gene IKBKG Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci testato
nl-NL	Dutch (Netherlands)	IKBKG-gen geteste mutaties:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek Synonyms: IKBKG gen molgen
pl-PL	Polish (Poland)	IKBKG gen badanie w kierunku mutacji:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna Synonyms: diagnostyka molekularna Gen IKBKG wynik kategorialny
pt-BR	Portuguese (Brazil)	IKBKG gene testes para mutação:Ident:Pt:Sg/Tecido:Nom:Genética molecular Synonyms: NEMO; AMCBX1; FIP3; IKKAP1; IKKG; inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma; IKK-gamma; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Mut Tested; Mutation; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU	Russian (Russian Federation)	IKBKG ген мутации тестирован на:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация тестирован;анализ проведен на;исследован на Ткань и мазки Точка во времени;Момент
tr-TR	Turkish (Turkey)	IKBKG geni mutasyonlar, test edilen:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN	Chinese (China)	IKBKG 基因已测试的突变: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: inhibitor of kappaB kinase gamma;inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma;IKBKG;kappaB 激酶 gamma 抑制因子;B-细胞 kappa 轻链多肽基因增强子, 激酶 gamma 抑制因子;AMCBX1;FIP-3;FIP3;Fip3p;IKK-gamma;IP;IP1;IP2;IPD2;NEMO;kappaB 激酶γ抑制因子;B-细胞 kappa 轻链全血或组织;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存在;存在与否;特征标识;身份;身份标识已检测的;已检验的;经检测的;经检验的;经测试的;经过检测的;经过检验的;经过测试的已检测的突变;已检验的突变;经检测的突变;经检验的突变;经测试的突变;经过检测的突变;经过检验的突变;经过测试的突变时刻;随机;随意;瞬间未作说明的组织;组织;组织 & 涂片突变突变类;基因突变血;血液遗传基因;遗传因子;吉恩;生物基因

LOINC Terminology Service (API) using HL7^® FHIR^® Get Info

CodeSystem lookup: https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=57757-7

LOINC Copyright

Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.