LP33555-1
FMR1 gene
Active
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
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 Display Name
- FMR1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2004-05-11
- Construct for LOINC Short Name
- FMR1 gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
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Language Variants Get Info
Tag | Language | Translation |
---|---|---|
zh-CN | Chinese (China) | FMR1 基因 Synonyms: 脆性 X; |
fr-CA | French (Canada) | Gène FMR1 |
et-EE | Estonian (Estonia) | FMR1 geen |
es-ES | Spanish (Spain) | Gen FMR1 |
it-IT | Italian (Italy) | FMR1, gene Synonyms: Gene FMR1 |
tr-TR | Turkish (Turkey) | FMR1 geni |
ru-RU | Russian (Russian Federation) | FMR1 ген |
nl-NL | Dutch (Netherlands) | FMR1-gen Synonyms: FMR1 gen |
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