Literature associating ALDH18A1 and autosomal recessive cutis laxa type IIIB
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 ...