FMR1 wt Allele

Preferred Label : FMR1 wt Allele;

NCIt synonyms : Fragile X Mental Retardation 1 wt Allele; MGC87458; FMRP; FRAXA; Premature Ovarian Failure 1 Gene; POF1; POF;

NCIt definition : Human FMR1 wild-type allele is located in the vicinity of Xq27.3 and is approximately 39 kb in length. This allele, which encodes fragile X mental retardation protein 1, may play a role in the mediation of mRNA transport. Amplification of a trinucleotide repeat (CGG) within the gene is associated with fragile X syndrome.;

NCIt note : Fragile X tremor/ataxia syndrome results from the occurrence of 55-200 repeats of the CGG sequence while having over 200 repeats of the trinucleotide results in the more severe fragile X syndrome with mental retardation.;

GenBank Accession Number : X69962;

Details

Origin ID

C75422;

UMLS CUI

C2700049;

OMIM relation
- Fragile X messenger ribonucleoprotein 1 [OMIM gene]
See also inter- (CISMeF)
- FRAXA (disorder) [SNOMED CT concept]
- Premature ovarian failure 1 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- Xq27.3 [NCIt concept]
gene_plays_role_in_process
- Intracellular Transport [NCIt concept]
- Ligand Binding [NCIt concept]
- RNA Binding [NCIt concept]
- RNA Transport [NCIt concept]
- Translational Repression [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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