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Literature summary for 3.5.1.12 extracted from

  • Thodi, G.; Schulpis, K.H.; Molou, E.; Georgiou, V.; Loukas, Y.L.; Dotsikas, Y.; Papadopoulos, K.; Biti, S.
    High incidence of partial biotinidase deficiency cases in newborns of Greek origin (2013), Gene, 524, 361-362.
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
genotyping of biotinidase deficiency greek patient genes, real-time PCR Homo sapiens

Protein Variants

Protein Variants Comment Organism
C186Y/D444H naturally occuring mutation involved in biotinidase deficiency Homo sapiens
D444H naturally occuring homozygous mutation involved in biotinidase deficiency Homo sapiens
D444H/Q456H naturally occuring mutation involved in biotinidase deficiency Homo sapiens
D444H/T532M naturally occuring mutation involved in biotinidase deficiency Homo sapiens
R157H/D444H naturally occuring mutation involved in biotinidase deficiency Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens P43251 gene BTD
-

General Information

General Information Comment Organism
malfunction biotinidase deficiency (BTD) is an inherited disorder with severe clinical manifestations if not treated early Homo sapiens