Protein Variants | Comment | Organism |
---|---|---|
Y231del | homozygous mutation observed in two unrelated patients with enzyme deficiency. Mutation results in loss of enzyme activity in skin fibroblasts. Long-term cultured fibroblasts bearing the mutant accumulate Gly-L-Pro dipeptide intracellularly | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
patients with enzyme deficiency | - |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
fibroblast | derived from skin | Homo sapiens | - |
skin | - |
Homo sapiens | - |