Details for Gene ARG1

GENE NAME ARG1
CHROMOSOME 6
ENSEMBL ID None
ENTREZ ID ENSG00000118520
UNIPROT ACCESSION NUMBER P05089
GO MOLECULAR FUNCTION ['arginase activity', 'identical protein binding', 'protein binding', 'manganese ion binding']
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa00220; hsa00330; hsa01100; hsa01230; hsa05146; R-HSA-1430728; R-HSA-168249; R-HSA-168256; R-HSA-6798695; R-HSA-70635; R-HSA-71291
1 combination linked to ARG1 OLI1679
1 variant linked to ARG1 ARG1:c.386T>C, p.Ile129Thr
1 disease linked to ARG1 Non-Syndromic genetic keratoconus

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