Biotinidase

Alternative Names

  • BTD

Associated Diseases

Biotinidase Deficiency
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OMIM Number

609019

NCBI Gene ID

686

Uniprot ID

P43251

Length

120,971 bases

No. of Exons

11

No. of isoforms

4

Protein Name

Biotinidase

Molecular Mass

61133 Da

Amino Acid Count

543

Genomic Location

chr3:15,601,351-15,722,515

Gene Map Locus
3p25.1

Description

Biotin is a B vitamin and a coenzyme for four carboxylases that is required for normal metabolism in humans. It plays an important role in the metabolism of fats and amino acids, aerobic respiration and cell growth. The enzyme coded by the BTD gene, biotinidase, works to regenerate free biotin by cleaving biocytin, a product of carboxylase degradation. It also processes biotin found in food, freeing it from being bound to proteins. 

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001281723.3:c.1147T>GUnited Arab EmiratesNC_000003.12:g.15645063T>GLikely Pathogenic, PathogenicLikely Pathogenic, PathogenicBiotinidase DeficiencyNG_008019.2:g.48712T>G; NM_001281723.3:c.1147T>G; NP_001357587.1:p.Phe383Val104893686143949
NM_001281723.3:c.1224C>TSomaliaNC_000003.12:g.15645140C>TBenign, Likely BenignLikely BenignBiotinidase DeficiencyNG_008019.1:g.48393C>T; NM_001281723.3:c.1224C>T; NP_001268652.2:p.Tyr408= 3514593838593
NM_001281723.3:c.1270G>CUnited Arab EmiratesNC_000003.12:g.15645186G>CLikely Benign, Likely Pathogenic, Pathogenic, Uncertain SignificanceLikely Pathogenic, PathogenicBiotinidase DeficiencyNG_008019.2:g.48835G>C; NM_001281723.3:c.1270G>C; NP_001268652.2:p.Asp424His130788811900
NM_001281723.3:c.1308A>CPalestineNC_000003.12:g.15645224A>CLikely Benign, PathogenicLikely PathogenicBiotinidase DeficiencyNG_008019.2:g.48873A>C; NM_001281723.3:c.1308A>C; NP_001268653.2:p.Gln436His803386851902
NM_001281723.3:c.130G>ALebanonchr3:15635569PathogenicPathogenicBiotinidase DeficiencyNG_008019.1:g.38822G>A; NM_001281723.3:c.130G>A; NP_001310511.1:p.Glu44Lys39751434024980
NM_001281723.3:c.1429C>TEgypt; Somalia; United...NC_000003.12:g.15645345C>TPathogenicLikely Pathogenic, PathogenicBiotinidase DeficiencyNG_008019.1:g.48598C>T; NM_001281723.3:c.1429C>T; NP_001268652.2:p.Pro477Ser13881890725094
NM_001281723.3:c.197T>CUnited Arab EmiratesNC_000003.12:g.15635636T>CLikely PathogenicBiotinidase DeficiencyNG_008019.2:g.39285T>C; NM_001281723.3:c.197T>C; NP_001268653.2:p.Met66Thr587783002
NM_001281723.3:c.364C>ASomaliaNC_000003.12:g.15642022C>ALikely Pathogenic, Pathogenic, Uncertain SignificanceLikely Pathogenic, PathogenicBiotinidase DeficiencyNG_008019.1:g.45275C>A; NM_001281723.3:c.364C>A; NP_001268652.2:p.Pro122Thr39751435725004
NM_001281723.3:c.410G>ASyriaNC_000003.12:g.15644326G>APathogenicLikely PathogenicBiotinidase DeficiencyNG_008019.2:g.47975G>A; NM_001281723.3:c.410G>A; NP_001310511.1:p.Arg137His14601559238290
NM_001281723.3:c.416G>AUnited Arab EmiratesNC_000003.12:g.15644332G>ALikely Pathogenic, Uncertain SignificanceLikely PathogenicBiotinidase DeficiencyNG_008019.2:g.47981G>A; NM_001281723.3:c.416G>A; NP_001268652.2:p.Ser139Asn1447179991236181
NM_001281723.3:c.497G>AUnited Arab EmiratesNC_000003.12:g.15644413G>ALikely Pathogenic, PathogenicLikely Pathogenic, PathogenicBiotinidase DeficiencyNG_008019.2:g.48062G>A; NM_001281723.3:c.497G>A; NP_001268652.2:p.Cys166Tyr39751436925020
NM_001281723.3:c.566G>AEgyptNC_000003.12:g.15644482G>ALikely Pathogenic, PathogenicLikely PathogenicBiotinidase DeficiencyNG_008019.2:g.48131G>A; NM_001281723.3:c.566G>A; NP_001268653.2:p.Arg189His39812313992400
NM_001281723.3:c.908A>GUnited Arab EmiratesNC_000003.12:g.15644824A>GLikely Pathogenic, Pathogenic, Uncertain SignificanceLikely PathogenicBiotinidase DeficiencyNG_008019.2:g.48473A>G; NM_001281723.3:c.908A>G; NP_001357587.1:p.His303Arg39750717638278
NM_001370658.1:c.1535C>TMorocco; Syria; United...NC_000003.12:g.15645451C>TPathogenicLikely PathogenicBiotinidase DeficiencyNG_008019.2:g.49100C>T; NM_001370658.1:c.1535C>T; NP_001357587.1:p.Thr512Met1048936881897
NM_001370658.1:c.262A>GUnited Arab EmiratesNC_000003.12:g.15641920A>GLikely Pathogenic, Uncertain SignificanceLikely PathogenicBiotinidase DeficiencyNG_008019.2:g.45569A>G; NM_001370658.1:c.262A>G; NP_001357587.1:p.Ile88Val976185636801944
NM_001370658.1:c.500delUnited Arab EmiratesNC_000003.12:g.15644416delPathogenicPathogenicBiotinidase DeficiencyNG_008019.2:g.48065del; NM_001370658.1:c.500del; NP_001357587.1:p.Pro167fs1325381

Other Reports

United Arab Emirates

Khan. 2021 reported on a 13-year-old Emirati girl with juvenile optic atrophy, functional visual loss, bialteral optic nerve head pallor, mild thinning of the oribtal segments of the optic nerves, and hearing difficulty. She exhibited inner retinal thinning and abnormally low serum biotinidase. Mutations in BTD "c.1213T>G; p.Phe405Val" and "c.1336G>C; p.Asp446His" were reported as homozygous in the affected girl, and heterozygous in the parents. [note: variant coordinates do not match reference map by dbSNP] 

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