Disease-gene associations mined from literature

Literature associating ARG1 and spastic quadriplegia

ARG1 [ENSP00000349446]

Liver-type arginase; Key element of the urea cycle converting L-arginine to urea and L-ornithine, which is further metabolized into metabolites proline and polyamides that drive collagen synthesis and bioenergetic pathways critical for cell proliferation, respectively; the urea cycle takes place primarily in the liver and, to a lesser extent, in the kidneys.

Synonyms:  ARG1,  ARG1p,  hARG1,  P05089,  P05089p ...

Linkouts:  STRING  Pharos  UniProt