View source for Biotinidase

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{{Short description|Class of enzymes}}
{{Redirect|BTD}}
{{infobox_gene}}
{{infobox protein
|Name=Biotinidase
|caption=
|image=
|width=
|HGNCid=1122
|Symbol=BTD
|AltSymbols=
|EntrezGene=686
|OMIM=609019
|RefSeq=NM_000060
|UniProt=P43251
|PDB=
|ECnumber=3.5.1.12
|Chromosome=3
|Arm=p
|Band=25
|LocusSupplementaryData=
}}
'''Biotinidase''' ({{EC number|3.5.1.12}}, ''amidohydrolase biotinidase'', ''BTD''), also known as '''biotinase''',<ref>{{Cite web |title=ENZYME - 3.5.1.12 Biotinidase |url=https://enzyme.expasy.org/EC/3.5.1.12 |access-date=2022-03-06 |website=enzyme.expasy.org}}</ref> is an [[enzyme]] that in humans is encoded by the ''BTD'' [[gene]].

The enzyme breaks down biotin amides, releasing free biotin and the amine. The main substrate is [[biocytin]], or biotin linked to [[lysine]]. It is also capable of breaking apart biotin esters.

== Function ==
This enzyme allows the body to use and to recycle the B vitamin [[biotin]], sometimes called vitamin H. Biotinidase extracts biotin from food because the body needs biotin in its free, unattached form. This enzyme also recycles biotin from enzymes in the body that use it as a helper component in order to function. These enzymes, known as [[carboxylase]]s, are important in the processing of [[fat]]s, [[carbohydrate]]s, and [[protein]]s. Biotin is attached to these carboxylase enzymes through an [[amino acid]] (the building material of proteins) called [[lysine]], forming a complex called [[biocytin]]. Biotinidase removes biotin from biocytin and makes it available to be reused by other enzymes.

== Clinical significance ==

[[Biotin]], sometimes called vitamin H, is an important water-soluble vitamin that aids in the [[metabolism]] of [[fat]]s, [[carbohydrate]]s and [[protein]]s.  The human body cannot produce biotin, but it can obtain it from the diet, internal recycling and at some extent from intestinal bacteria.  [[Biotin deficiency]] can result in behavioral disorders, lack of coordination, learning disabilities and seizure.

Unlike most vitamins, which are [[noncovalent]]ly bound to enzymes, biotin is chemically linked ([[covalent]]ly bound), and therefore cannot be easily removed from the enzyme [[Denaturation (biochemistry)|denaturation]].  Without biotinidase activity, the vitamin biotin cannot be separated from foods and therefore cannot be used by the body.  [[Biotinidase deficiency]] is an [[inherited disorder]] caused by [[mutation]]s in the BTD gene.  When biotinidase activity is deficient, biotin can be neither recycled within the body nor removed from ingested food.  Nor can biotin be recycled from enzymes to which it is bound.  Deficient biotinidase activity causes specific  [[metabolic]] enzymes, called carboxylases, to be nonfunctional, inhibiting the proper processing of proteins, fats, and carbohydrates.  Individuals lacking biotinidase activity can still have normal carboxylases if they ingest small amounts of biotin.
Approximately 1 in 60,000 newborns are affected by profound (less than 10 percent of normal enzyme activity) or partial (10-30 percent of normal enzyme activity) biotinidase deficiency.

== Genetics ==
The BTD gene is located on the short (p) arm of [[chromosome 3 (human)|chromosome 3]] at position 25, from [[base pair]] 15,618,326 to base pair 15,662,328.  [[Mutation]]s in the ''[[BTD]]'' [[gene]] cause biotinidase deficiency.

Approximately 100 mutations in the BTD gene that lead to biotinidase deficiency have been discovered.  These mutations either prevent the enzyme from being made or cause the enzyme that is produced to be nonfunctional.

This condition is inherited in an [[autosomal recessive]] pattern, which means two copies of the gene in each cell must be altered for a person to be affected by the disorder. Most often, the parents of a child with an autosomal recessive disorder are not affected but are carriers of one copy of the altered gene.<ref>{{cite journal|last=Pindolia|first=K|author2=Jordan, M|author3=Wolf, B|title=Analysis of mutations causing biotinidase deficiency.|journal=Human Mutation|date=September 2010|volume=31|issue=9|pages=983–91|pmid=20556795|doi=10.1002/humu.21303|s2cid=26622938|doi-access=free}}</ref>

==Disease Database==
[http://www.arup.utah.edu/database/BTD/BTD_welcome.php BTD gene variant database]

== References ==

{{reflist}}
* {{cite journal | doi=10.1016/S1096-7192(02)00231-7 |vauthors=Dobrowolski SF, Angeletti J, Banas RA, Naylor EW | title=Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency | journal=Mol Genet Metab | year=2003 | pages=100–7 | volume=78 | issue=2 |  pmid=12618081}}
* {{cite journal | author=McMahon RJ | title=Biotin in metabolism and molecular biology | journal=Annu Rev Nutr | year=2002 | pages=221–39 | volume=22 | doi=10.1146/annurev.nutr.22.121101.112819 |  pmid=12055344}}
* {{cite journal |vauthors=Neto EC, Schulte J, Rubim R, Lewis E, DeMari J, Castilhos C, Brites A, Giugliani R, Jensen KP, Wolf B | title=Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations | journal=Braz J Med Biol Res | year=2004 | pages=295–9 | volume=37 | issue=3 | doi=10.1590/S0100-879X2004000300001 |  pmid=15060693| doi-access=free | hdl=10183/21194 | hdl-access=free }}
* {{cite journal | doi=10.1111/j.1469-8749.2004.tb00509.x |vauthors=Weber P, Scholl S, Baumgartner ER | title=Outcome in patients with profound biotinidase deficiency: relevance of newborn screening | journal=Dev Med Child Neurol | year=2004 | pages=481–4 | volume=46 | issue=7 |  pmid=15230462|s2cid=23111366 | doi-access=free }}
* {{cite journal |vauthors=Hymes J, Stanley CM, Wolf B | title=Mutations in BTD causing biotinidase deficiency | journal=Hum Mutat | year=2001 | pages=375–81 | volume=18 | issue=5 | doi=10.1002/humu.1208 |  pmid=11668630 | s2cid=31031088 | doi-access=free }}
* {{cite journal | doi=10.1007/s11940-003-0038-4 | author=Wolf B | title=Biotinidase Deficiency: New Directions and Practical Concerns | journal=Curr Treat Options Neurol | year=2003 | pages=321–328 | volume=5 | issue=4 |  pmid=12791199 | s2cid=25158348 }}
{{GHR}}

== External links ==
* {{MeshName|Biotinidase}}

{{Carbon-nitrogen non-peptide hydrolases}}
{{Enzymes}}
{{Portal bar|Biology|border=no}}

[[Category:EC 3.5.1]]

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