Defective extracellular BTD does not hydrolyse BCTN

Stable Identifier
R-HSA-3325540
Type
Reaction [transition]
Species
Homo sapiens
Compartment
extracellular region
ReviewStatus
5/5
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Defective extracellular BTD does not hydrolyse BCTN
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Human biotinidase (BTD, EC 3.5.1.12) (Cole et al. 1994) catalyzes the hydrolysis of biocytin (BCTN, aka biotinyl-lysine), a product of biotin dependent carboxylase degradation, to biotin (Btn) and lysine. The process results in the regeneration of free Btn, an essential coenzyme for 5 carboxylases necessary for normal metabolism in humans. BTD is both secreted from various cells and localised in the mitochondria (Wolf & Jensen 2005). BTD deficiency, an autosomal recessive disorder, results in a secondary Btn deficiency that leads to juvenile onset multiple carboxylase deficiency (MIM:253260) (Wolf et al. 1983). More than 165 mutations in BTD have been reported (Procter et al. 2013, Pomponio et al. 1995, Pomponio et al. 1996, Wolf et al. 1997, Pomponio et al. 2000).
Literature References
PubMed ID Title Journal Year
7550325 Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency

Pomponio, RJ, Reynolds, TR, Cole, H, Buck, GA, Wolf, B

Nat. Genet. 1995
7758201 Biotinylation of biotinidase following incubation with biocytin

Hymes, J, Fleischhauer, K, Wolf, B

Clin. Chim. Acta 1995
9375914 Profound biotinidase deficiency in two asymptomatic adults

Wolf, B, Norrgard, K, Pomponio, RJ, Mock, DM, McVoy, JR, Fleischhauer, K, Shapiro, S, Blitzer, MG, Hymes, J

Am. J. Med. Genet. 1997
23550138 The Biotinidase Gene Variants Registry: A Paradigm Public Database

Procter, M, Wolf, B, Crockett, DK, Mao, R

G3 (Bethesda) 2013
10801053 Novel mutations cause biotinidase deficiency in Turkish children

Pomponio, RJ, Coskun, T, Demirkol, M, Tokatli, A, Ozalp, I, Hüner, G, Baykal, T, Wolf, B

J. Inherit. Metab. Dis. 2000
16150625 Evolutionary conservation of biotinidase: implications for the enzyme's structure and subcellular localization

Wolf, B, Jensen, K

Mol. Genet. Metab. 2005
7509806 Human serum biotinidase. cDNA cloning, sequence, and characterization

Cole, H, Reynolds, TR, Lockyer, JM, Buck, GA, Denson, T, Spence, JE, Hymes, J, Wolf, B

J. Biol. Chem. 1994
6883721 Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency

Wolf, B, Grier, RE, Allen, RJ, Goodman, SI, Kien, CL

Clin. Chim. Acta 1983
Participants
Input
Participates
as an event of
Catalyst Activity

biotinidase activity of BTD mutants [extracellular region]

Physical Entity
BTD mutants [extracellular region] (Homo sapiens)
Activity
biotinidase activity (GO:0047708)
Normal reaction
Extracellular BTD hydrolyses BCTN (Homo sapiens)
Functional status

Loss of function of BTD mutants [extracellular region]

Normal Entity
Disease Entity
Status
Disease
Cross References
Mondo
Authored
Jassal, B  (2013-05-10)
Reviewed
Polyak, SW  (2013-08-15)
Created
Jassal, B  (2013-05-10)
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