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COL1A1 gene
mutations seen in Ehlers-Danlos syndrome type VIIA, autosomal dominant; osteogenesis imperfecta types I, II, III, IV; & osteoporosis.
Related
collagen 1 alpha-1; collagen alpha-1(I) chain; alpha-1 type I collagen (COL1A1)
General
unclassified gene
Properties
TEMPLATE-FOR: messenger RNA
TEMPLATE-FOR: collagen 1 alpha-1
LOCUS: human chromosome-17 Q21.31-22.05
MOTIF: transcription factor binding site
transcriptional start site
exon
intron
transcriptional termination site
Database Correlations
OMIM 120150
MORBIDMAP 120150