Gene: CANT1

Alternate names for this Gene: DBQD|DBQD1|EDM7|SCAN-1|SCAN1|SHAPY

Gene Summary: This protein encoded by this gene belongs to the apyrase family. It functions as a calcium-dependent nucleotidase with a preference for UDP. Mutations in this gene are associated with Desbuquois dysplasia with hand anomalies. Alternatively spliced transcript variants have been noted for this gene.

Gene is located in Chromosome: 17

Location in Chromosome : 17q25.3

Description of this Gene: calcium activated nucleotidase 1

Type of Gene: protein-coding

rs4789847 in CANT1 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs150181226 in CANT1 gene and DESBUQUOIS DYSPLASIA 1 PMID 19853239 2009 Identification of CANT1 mutations in Desbuquois dysplasia.

PMID 21037275 2011 CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant.

PMID 21654728 2011 Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene.

PMID 20425819 2010 Mutation of CANT1 causes Desbuquois dysplasia.

PMID 22539336 2012 Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.

PMID 21412251 2011 A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia.

rs267606701 in CANT1 gene and Multiple congenital anomalies PMID 22539336 2012 Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.

PMID 25486376 2015 A novel CANT1 mutation in three Indian patients with Desbuquois dysplasia Kim type.

PMID 21037275 2011 CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant.