DISEASES

Disease-gene associations mined from literature

Literature associating ALDH18A1 and geroderma osteodysplasticum

ALDH18A1 [ENSP00000360268]

Delta-1-pyrroline-5-carboxylate synthase; Bifunctional enzyme that converts glutamate to glutamate 5- semialdehyde, an intermediate in the biosynthesis of proline, ornithine and arginine. ECO:0000269|PubMed:11092761, ECO:0000269|PubMed:26297558,

Synonyms:  ALDH18A1,  P54886,  P54886p,  hP54886,  1.2.1.41 ...

Linkouts:  STRING  Pharos  UniProt  OMIM