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LCA5 gene
6q14.1
Pathology:
- defect in LCA5 gene associated with Leber congenital amaurosis
Related
LCA5 gene mutation
lebercilin
General
unclassified gene
Properties
TEMPLATE-FOR: messenger RNA
TEMPLATE-FOR: lebercilin
LOCUS: human chromosome-6 Q14
MOTIF: transcription factor binding site
transcriptional start site
exon
intron
transcriptional termination site
Database Correlations
Entrez Gene 167691
References
- den Hollander AI et al,
Mutations encoding the ciliary protein lebercilin, cause
Leber congenital amaurosis.
Nat Genet 2007, 39:889
PMID: 17546029