DISEASES

Disease-gene associations mined from literature

Literature associating ALDH18A1 and autosomal recessive cutis laxa type IIIB

ALDH18A1 [ENSP00000360268]

Aldehyde dehydrogenase 18 family, member A1; Bifunctional enzyme that converts glutamate to glutamate 5-semialdehyde, an intermediate in the biosynthesis of proline, ornithine and arginine.

Synonyms:  ALDH18A1,  ALDH18A1-001,  ALDH18A1-002,  ALDH18A1-003,  ALDH18A1-004 ...

Linkouts:  STRING  Pharos  UniProt  OMIM