Jagged 1

Alternative Names

  • JAG1
  • JAGL1

Associated Diseases

Alagille Syndrome 1
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OMIM Number

601920

NCBI Gene ID

182

Uniprot ID

P78504

Length

36,424 bases

No. of Exons

26

No. of isoforms

2

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 NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000214.2:c.1388_1389insTLebanonNC_000020.11:g.10649067_10649068insALikely PathogenicAlagille Syndrome 1NG_007496.1:g.29979_29980insT; NM_000214.2:c.1388_1389insT; NP_000205.1:p.Cys464LeufsTer6
NM_000214.2:c.1481dupSaudi ArabiaNC_000020.11:g.10648638dupLikely PathogenicRetinitis PigmentosaNG_007496.1:g.30410dup; NM_000214.2:c.1481dup; NP_000205.1:p.Asn494LysfsTer12
NM_000214.2:c.235C>TOmanNC_000020.11:g.10672853G>ALikely PathogenicLikely PathogenicAlagille Syndrome 1NG_007496.1:g.6194C>T; NM_000214.2:c.235C>T; NP_000205.1:p.Leu79Phe1710482
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