LP71421-9
FIG4 gene
Active
Description
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
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 Name
- FIG4 gene
- Part Display Name
- FIG4 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2008-10-01
- Construct for LOINC Short Name
- FIG4 gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP71421-9 - ConceptMap translate
- https:
//fhir.loinc.org/ConceptMap/$translate?system=http: //loinc.org&code=LP71421-9
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen FIG4 |
| it-IT | Italian (Italy) | FIG4, gene Synonyms: Gene FIG4 |
| et-EE | Estonian (Estonia) | FIG4 geen |
| zh-CN | Chinese (China) | FIG4 基因 Synonyms: ALS11; |
| tr-TR | Turkish (Turkey) | FIG4 geni |
| ru-RU | Russian (Russian Federation) | FIG4 ген |
| nl-NL | Dutch (Netherlands) | FIG4-gen Synonyms: FIG4 gen |
| pl-PL | Polish (Poland) | FIG4 gen Synonyms: FIG4 gen |
| el-GR | Greek (Greece) | Γονίδιο FIG4 Synonyms: Γονίδιο FIG4 |
LOINC Copyright
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