Cartilage-Associated Protein

Alternative Names

CRTAP
CASP
Leprecan-Like 3
LEPREL3

Length

33,760 bases

No. of Exons

No. of isoforms

Protein Name

Cartilage-associated protein

Molecular Mass

46562 Da

Amino Acid Count

401

Genomic Location

chr3:33,114,013-33,147,772

Gene Map Locus

3p22.3

Description

The protein encoded by this gene is similar to the chicken and mouse CRTAP genes. The encoded protein is a scaffolding protein that may influence the activity of at least one member of the cytohesin/ARNO family in response to specific cellular stimuli. Defects in this gene are associated with osteogenesis imperfecta, a connective tissue disorder characterized by bone fragility and low bone mass. [From RefSeq]

Epidemiology in the Arab World

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Saudi Arabia

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_006371.5:c.561T>G	Saudi Arabia	NC_000003.12:g.33120433T>G	Pathogenic	Pathogenic	Osteogenesis Imperfecta, Type VII	NG_008122.1:g.11476T>G; NM_006371.5:c.561T>G; NP_006362.1:p.Tyr187Ter	387907334	41923
NM_006371.5:c.826C>T	Saudi Arabia	NC_000003.12:g.33129971C>T	Pathogenic	Pathogenic	Osteogenesis Imperfecta, Type VII	NG_008122.1:g.21014C>T; NM_006371.5:c.826C>T; NP_006362.1:p.Gln276Ter	72659361	4950

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=crtap

Contributors

Asha Deepthi: 09.11.2021

Edit History

Asha Deepthi: 09.11.2021

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