53862-9
FIG4 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Active
Part Description
LP71421-9 FIG4 gene
The FIG4 gene (FIG4 phosphoinositide 5-phosphatase) [HGNC Gene ID:16873] is located on chromosome 6q21. The protein encoded by this gene belongs to the SAC domain-containing protein gene family. The SAC domain, approximately 400 amino acids in length and consisting of seven conserved motifs, has been shown to possess phosphoinositide phosphatase activity. The yeast homolog, Sac1p, is involved in the regulation of various phosphoinositides, and affects diverse cellular functions such as actin cytoskeleton organization, Golgi function, and maintenance of vacuole morphology. Membrane-bound phosphoinositides function as signaling molecules and play a key role in vesicle trafficking in eukaryotic cells. Mutations in this gene have been associated with Charcot-Marie-Tooth disease, type 4J. [provided by RefSeq, Jul 2008] [NCBI Gene ID:9896]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- FIG4 gene targeted mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Long Common Name
- FIG4 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
- Short Name
- FIG4 gene Mut Anl Bld/T
- Display Name
- FIG4 gene targeted mutation analysis Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- FIG4 gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.26
- Last Updated
- Version 2.68 (MIN)
- 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 |
|---|---|---|
| el-GR | Greek (Greece) | Γονίδιο FIG4 στοχευμένη ανάλυση μεταλλάξεων: Synonyms: Prid Γονίδιο Γονίδιο FIG4 |
| es-ES | Spanish (Spain) | Gen FIG4 Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen FIG4: |
| fr-FR | French (France) | FIG4 gène mutation cible trouvée: |
| it-IT | Italian (Italy) | FIG4, gene analisi di mutazione mirata: Synonyms: Gene FIG4 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | FIG4-gen doelgerichte mutatie-analyse: Synonyms: FIG4 gen molgen targeted |
| pl-PL | Polish (Poland) | FIG4 gen analiza mutacji ukierunkowanych: Synonyms: FIG4 gen |
| pt-BR | Portuguese (Brazil) | FIG4 análise de mutação genética: Synonyms: SAC3; |
| ru-RU | Russian (Russian Federation) | FIG4 ген исследование на мутацию: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | FIG4 geni Mutasyon analizi: |
| zh-CN | Chinese (China) | FIG4 基因 突变分析: Synonyms: ALS11; |
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