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choroideraemia gene
Xq21.2
Pathology:
- defects associated with X-linked form of hereditary blindness
Related
rab escort protein-1 (REP-1, TCD protein, p95 choroideraemia gene product, p95CHM, CHM, REP1, TCD)
General
unclassified gene
Properties
TEMPLATE-FOR: messenger RNA
TEMPLATE-FOR: rab escort protein-1
LOCUS: human X-chromosome
MOTIF: transcription factor binding site
transcriptional start site
exon
intron
transcriptional termination site
Database Correlations
OMIM 303100
Entrez Gene 1121
References
- Boguski MS & McCormick F
Proteins regulating Ras and its relative.
Nature 366:643 1993
PMID: 8259209