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 |