LP19788-6
FMR1 gene.CGG repeats
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Description
The FMR1 gene (fragile X mental retardation 1) [HGNC Gene ID:3775] is located on chromosome Xq27.3. The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome. Expansion of the trinucleotide repeat may also cause one form of premature ovarian failure (POF1). Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene. [provided by RefSeq, May 2010] [NCBI Gene ID:2332] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Display Name
- FMR1 gene CGG repeats
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2000-05-04
- Construct for LOINC Short Name
- FMR1 gene CGG Rpt
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=LP19788-6
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | FMR1 基因.CGG 重复序列 |
| et-EE | Estonian (Estonia) | FMR1 geen.CGG kordused |
| es-ES | Spanish (Spain) | Repeticiones CGG del gen FMR1 |
| it-IT | Italian (Italy) | FMR1, gene.CGG ripetizioni Synonyms: Ripetizioni CGG del gene FMR1 |
| tr-TR | Turkish (Turkey) | FMR1 geni.CGG tekrarları |
| ru-RU | Russian (Russian Federation) | FMR1 ген.CGG повторы |
| nl-NL | Dutch (Netherlands) | FMR1-gen.CGG repeats Synonyms: FMR1 gen.CGG repeats |
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