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Browse result for Cutis laxa

※ introduction

    Cutis laxa or pachydermatocele is a group of rare connective tissue disorders in which the skin becomes inelastic and hangs loosely in folds.

Reference
Wiki: Cutis laxa



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD00581P323225831
PYCR1
Pyrroline-5-carboxylate reductase 1, mitochondrial
Homo sapiens
PTMD05598P548865832
ALDH18A1
Delta-1-pyrroline-5-carboxylate synthase [Includes: Glutamate 5-kinase ; Gamma-glutamyl phosphate reductase ]
Homo sapiens