Gene: CLTRN ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57393
Gene Symbol: CLTRN
CLTRN 		0.030 Biomarker disease BEFREE We propose that collectrin deficiency in humans can be associated with aminoaciduria and a clinical picture similar to that seen in Hartnup disease. 31520464 2019
Entrez Id: 57393
Gene Symbol: CLTRN
CLTRN 		0.030 GeneticVariation disease BEFREE Furthermore, the recent explosion of research into the ACE2 homolog, collectrin, has revealed a new physiological function of ACE2 as an amino acid transporter, which explains the pathogenic role of gene mutations in Hartnup disorder. 20134095 2010
Entrez Id: 57393
Gene Symbol: CLTRN
CLTRN 		0.030 GeneticVariation disease BEFREE Coexpression of the Hartnup disorder causing mutation B(0)AT1(R240Q) showed reduced interaction with ACE2 and its renal paralogue collectrin. 18424768 2008