Jagged 1

Alternative Names

JAG1
JAGL1

Length

36,424 bases

No. of Exons

No. of isoforms

Protein Name

Jagged 1

Molecular Mass

133,799 Da

Amino Acid Count

1218

Genomic Location

chr20:10,637,684-10,674,107

Gene Map Locus

20p12.2

Description

JAG1 gene encodes a ligand for the NOTCH receptor, the jagged 1 protein. This protein is involved in the mediation of NOTCH signaling and in the cell-fate decisions during hematopoiesis. It also seems to have a role in early and late stages of cardiovascular development.

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	Clinvar
NM_000214.2:c.1388_1389insT	Lebanon	NC_000020.11:g.10649067_10649068insA		Likely Pathogenic	Alagille Syndrome 1	NG_007496.1:g.29979_29980insT; NM_000214.2:c.1388_1389insT; NP_000205.1:p.Cys464LeufsTer6
NM_000214.2:c.1481dup	Saudi Arabia	NC_000020.11:g.10648638dup		Likely Pathogenic	Retinitis Pigmentosa	NG_007496.1:g.30410dup; NM_000214.2:c.1481dup; NP_000205.1:p.Asn494LysfsTer12
NM_000214.2:c.235C>T	Oman	NC_000020.11:g.10672853G>A	Likely Pathogenic	Likely Pathogenic	Alagille Syndrome 1	NG_007496.1:g.6194C>T; NM_000214.2:c.235C>T; NP_000205.1:p.Leu79Phe	1710482

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External Links

http://ghr.nlm.nih.gov/gene/JAG1 http://www.genecards.org/cgi-bin/carddisp.pl?gene=JAG1

Contributors

Ghazi O. Tadmouri: 24.06.2013
Nada Assaf: 05.06.2013

Edit History

Sayeeda Hana: 30.12.2019
Pratibha Nair: 25.06.2013

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