JAG1

Highest pathogenic variant AF is 0.000006572807

Gene type

protein_coding

Transcript type

protein_coding

Transcript

ENST00000254958

Coding exons

26

Length

36363

Individuals with no LoFs

125740

Homozygous LoFs

0

Heterozygous LoFs

7

Defined

125747

p

0.0000278

Function

FUNCTION: Ligand for multiple Notch receptors and involved in the mediation of Notch signaling (PubMed:18660822, PubMed:20437614). May be involved in cell-fate decisions during hematopoiesis (PubMed:9462510). Seems to be involved in early and late stages of mammalian cardiovascular development. Inhibits myoblast differentiation (By similarity). Enhances fibroblast growth factor-induced angiogenesis (in vitro). {ECO:0000250, ECO:0000269|PubMed:18660822, ECO:0000269|PubMed:20437614, ECO:0000269|PubMed:9462510}.;

Disease

DISEASE: Alagille syndrome 1 (ALGS1) [MIM:118450]: A form of Alagille syndrome, an autosomal dominant multisystem disorder. It is clinically defined by hepatic bile duct paucity and cholestasis in association with cardiac, skeletal, and ophthalmologic manifestations. There are characteristic facial features and less frequent clinical involvement of the renal and vascular systems. {ECO:0000269|PubMed:10220506, ECO:0000269|PubMed:10533065, ECO:0000269|PubMed:11058898, ECO:0000269|PubMed:11139247, ECO:0000269|PubMed:11157803, ECO:0000269|PubMed:11180599, ECO:0000269|PubMed:12442286, ECO:0000269|PubMed:12497640, ECO:0000269|PubMed:15712272, ECO:0000269|PubMed:16575836, ECO:0000269|PubMed:20437614, ECO:0000269|PubMed:23801938, ECO:0000269|PubMed:9207788, ECO:0000269|PubMed:9585603}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Tetralogy of Fallot (TOF) [MIM:187500]: A congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing cyanosis. {ECO:0000269|PubMed:11152664, ECO:0000269|PubMed:20437614}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Deafness, congenital heart defects, and posterior embryotoxon (DCHE) [MIM:617992]: An autosomal dominant disease characterized by mild to severe combined hearing loss, congenital heart defects, and posterior embryotoxon, a corneal abnormality consisting of a central collagen core surrounded by a thin layer of Descemets membrane and separated from the anterior chamber by a layer of endothelium. Congenital heart defects include tetralogy of Fallot, ventricular septal defect, or isolated peripheral pulmonic stenosis. {ECO:0000269|PubMed:12022040, ECO:0000269|PubMed:20437614}. Note=The disease is caused by mutations affecting the gene represented in this entry.;