FMR-1 gene

Xq27.3 Structure: - contains trinucleotide repeat (CGG) in 5' untranslated region Pathology: - gene for Fragile X syndrome - contains trinucleotide repeat (CGG) in 5' untranslated region - unaffected family members have <50 repeats - affected family members may have expansions of thousands of base pairs

Related

Fragile X mental retardation 1 protein; protein FMR-1; FMRP (FMR1) fragile X syndrome

Properties

TEMPLATE-FOR: messenger RNA TEMPLATE-FOR: Fragile X mental retardation 1 protein SIZE: entity length = 4.8 KB LOCUS: human X-chromosome Q27.3 MOTIF: transcription factor binding site transcriptional start site exon MOTIF: trinucleotide repeat {5'UNTRANSLATED} intron transcriptional termination site

References

- Ross CA, McInnis MG, Margolis RL, Li SH. Genes with triplet repeats: candidate mediators of neuropsychiatric disorders. Trends Neurosci. 1993 Jul;16(7):254-60. Review. PMID: 7689767