Gene: JAG1

Alternate names for this Gene: AGS|AGS1|AHD|AWS|CD339|DCHE|HJ1|JAGL1

Gene Summary: The jagged 1 protein encoded by JAG1 is the human homolog of the Drosophilia jagged protein. Human jagged 1 is the ligand for the receptor notch 1, the latter is involved in signaling processes. Mutations that alter the jagged 1 protein cause Alagille syndrome. Jagged 1 signalling through notch 1 has also been shown to play a role in hematopoiesis.

Gene is located in Chromosome: 20

Location in Chromosome : 20p12.2

Description of this Gene: jagged canonical Notch ligand 1

Type of Gene: protein-coding

Gene: MIR6870

Alternate names for this Gene: hsa-mir-6870

Gene Summary: microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop.

Gene is located in Chromosome: 20

Location in Chromosome : 20p12.2

Description of this Gene: microRNA 6870

Type of Gene: ncRNA

rs863223650 in JAG1;MIR6870 gene and Alagille Syndrome 1 PMID 22487239 2012 Functional analysis of the Notch ligand Jagged1 missense mutant proteins underlying Alagille syndrome.

PMID 11058898 2000 Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population.