Literature summary for 3.5.1.12 extracted from

Li, H.; Spencer, L.; Nahhas, F.; Miller, J.; Fribley, A.; Feldman, G.; Conway, R.; Wolf, B.
Novel mutations causing biotinidase deficiency in individuals identified by newborn screening in Michigan including an unique intronic mutation that alters mRNA expression of the biotinidase gene (2014), Mol. Genet. Metab., 112, 242-246.

Search for more literature for 3.5.1.12

Cloned(Commentary)

Cloned (Comment)	Organism
genotyping of biotinidase deficiency american patient genes, quantitative real-time reverse-transcription PCR, most mutations in exon 4, overview	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
C458fs/H323R	naturally occuring mutation involved in biotinidase deficiency, no phenotype	Homo sapiens
D228G/D444H	naturally occuring mutation involved in biotinidase deficiency, no phenotype	Homo sapiens
D444H	naturally occuring mutation involved in biotinidase deficiency, the mutant enzyme shows 50% reduced activity compaerd to the wild-type enzyme, with phenotype	Homo sapiens
M86R/Q456H	naturally occuring mutation involved in biotinidase deficiency, no phenotype	Homo sapiens
N300H/D444H	naturally occuring mutation involved in biotinidase deficiency, no phenotype	Homo sapiens
R209H	naturally occuring mutation involved in biotinidase deficiency, no phenotype	Homo sapiens
R209H/Q456H	naturally occuring mutation involved in biotinidase deficiency, no phenotype	Homo sapiens
T152R/D444H	naturally occuring mutation involved in biotinidase deficiency, no phenotype	Homo sapiens
T234I	naturally occuring mutation involved in biotinidase deficiency, no phenotype	Homo sapiens
T234I/D444H	naturally occuring mutation involved in biotinidase deficiency, no phenotype	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P43251	gene BTD	-

General Information

General Information	Comment	Organism
malfunction	biotinidase deficiency is caused by enzyme mutations, correlation of phenotype and genotype, overview	Homo sapiens

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Release 2023.1 (January 2023)