Literature summary for 3.5.1.12 extracted from

Milankovics, I.; Nemeth, K.; Somogyi, C.; Schuler, A.; Fekete, G.
High frequencies of biotinidase (BTD) gene mutations in the Hungarian population (2010), J. Inherit. Metab. Dis., 33 Suppl 3, S289-S292.

Search for more literature for 3.5.1.12

Cloned(Commentary)

Cloned (Comment)	Organism
genotyping of Hungarian population, the most common biotinidase variant alleles are higher in the Hungarian population than in other Caucasian populations	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
A171T/D444H	naturally occuring mutation involved in BTD deficiency in Hungarian patients	Homo sapiens
D444H	naturally occuring mutation involved in BTD deficiency in Hungarian patients	Homo sapiens
additional information	c.98_104del7 insTCC is a naturally occuring truncation mutation involved in BTD deficiency	Homo sapiens
Q456H	naturally occuring mutation involved in BTD deficiency in Hungarian patients	Homo sapiens
R538C	naturally occuring mutation involved in BTD deficiency in Hungarian patients	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	Hungarian population	-

Synonyms

Synonyms	Comment	Organism
BTD	-	Homo sapiens

General Information

General Information	Comment	Organism
malfunction	biotinidase deficiency, an autosomal recessively inherited disorder, is characterized by neurologic and cutaneous symptoms and can be detected by newborn screening	Homo sapiens

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Release 2023.1 (January 2023)