Biotinidase (Human, Highly Pure)

Product Description

Biotinidase (Human, Highly Pure)
Catalog number: B2010464
Lot number: Batch Dependent
Expiration Date: Batch dependent
Amount: 10 ug
Molecular Weight or Concentration: 58.2 kDa
Supplied as: Lyophilized Powder
Appearance: Powder
Applications: highly pure (>95%) biotinidase expressed in HEK293 cells and highly active in hydrolyzing biocytin into lysine and biotin.
Storage: −20°C
Keywords: BTD Protein
Grade: Biotechnology grade. All solid components are highly pure (minimum 95%). All solutions are made with Type I ultrapure water (resistivity >18 MΩ-cm) and are filtered through 0.22 um.

References:
1: Canda E, Kalkan Uçar S, Çoker M. Biotinidase Deficiency: Prevalence, Impact
And Management Strategies. Pediatric Health Med Ther. 2020 May 4;11:127-133.

2: Wolf B. Biotinidase deficiency should be considered in individuals exhibiting
myelopathy with or without and vision loss. Mol Genet Metab. 2015
Nov;116(3):113-8.

3: Santoro JD, Paulsen KC. Biotinidase Deficiency as a Mimic of Neuromyelitis
Optica Spectrum Disorder in Childhood. JAMA Neurol. 2020 Oct 5;78(1):118–20.

4: Shah S, Khan N, Lakshmanan R, Lewis B, Nagarajan L. Biotini_dase deficiency
presenting as Neuromyelitis Optica Spectrum Disorder. Brain Dev. 2020
Nov;42(10):762-766.

5: Wolf B. Biotini_dase deficiency: “if you have to have an inherited metabolic
disease, this is the one to have”. Genet Med. 2012 Jun;14(6):565-75.

6: Yang Y, Yang JY, Chen XJ. Biotini_dase deficiency characterized by skin and
hair findings. Clin Dermatol. 2020 Jul-Aug;38(4):477-483.

7: Bilge N, Yevgi R. Biotini_dase deficiency in differential diagnosis of
neuromyelitis optica spectrum disorder. Mult Scler Relat Disord. 2020
Sep;44:102280.

8: Hymes J, Wolf B. Human biotinidase isn’t just for recycling biotin. J Nutr.
1999 Feb;129(2S Suppl):485S-489S.

9: Funghini S, Tonin R, Malvagia S, Caciotti A, Donati MA, Morrone A, la Marca
G. High frequency of biotinidase deficiency in Italian population identified by
newborn screening. Mol Genet Metab Rep. 2020 Dec 5;25:100689.
10: Küry S, Ramaekers V, Bézieau S, Wolf B. Clinical utility gene card for:
Biotinidase deficiency-update 2015. Eur J Hum Genet. 2016 Jul;24(7).

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