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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BTD Gene

protein-coding   GIFtS: 65
GCID: GC03P015621

Biotinidase

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
biotinidase1 2
EC 3.5.1.123 8
biotinase2
Biotinase3
EC 3.5.18

External Ids:    HGNC: 11221   Entrez Gene: 6862   Ensembl: ENSG000001698147   OMIM: 6090195   UniProtKB: P432513   

Export aliases for BTD gene to outside databases

Previous GC identifers: GC03P015572 GC03P015619 GC03P015620


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for BTD Gene:
The protein encoded by this gene functions to recycle protein-bound biotin by cleaving biocytin
(biotin-epsilon-lysine), a normal product of carboxylase degradation, resulting in regeneration of free biotin.
The encoded protein has also been shown to have biotinyl transferase activity. Mutations in this gene are
associated with biotinidase deficiency. Multiple transcript variants encoding different isoforms have been
described. (provided by RefSeq, Aug 2013)

GeneCards Summary for BTD Gene: 
BTD (biotinidase) is a protein-coding gene. Diseases associated with BTD include biotinidase deficiency, and multiple carboxylase deficiency, and among its related super-pathways are Metabolic pathways and Metabolism of water-soluble vitamins and cofactors. GO annotations related to this gene include biotin carboxylase activity and biotinidase activity. An important paralog of this gene is VNN1.

UniProtKB/Swiss-Prot: BTD_HUMAN, P43251
Function: Catalytic release of biotin from biocytin, the product of biotin-dependent carboxylases degradation




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NT_022517.18  NC_018914.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BTD gene promoter:
         Nkx3-1   GR   Nkx3-1 v4   Sp1   GR-beta   Nkx3-1 v1   GATA-1   Nkx3-1 v2   Nkx3-1 v3   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBTD promoter sequence
   Search SABiosciences Chromatin IP Primers for BTD

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BTD


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p25   Ensembl cytogenetic band:  3p25.1   HGNC cytogenetic band: 3p25

BTD Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BTD gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P015621:  view genomic region     (about GC identifiers)

Start:
15,642,848 bp from pter      End:
15,687,329 bp from pter
Size:
44,482 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: BTD_HUMAN, P43251 (See protein sequence)
Recommended Name: Biotinidase precursor  
Size: 543 amino acids; 61133 Da
Subcellular location: Secreted, extracellular space
Caution: It is uncertain whether Met-1 or Met-21 is the initiator
Secondary accessions: B2R865 Q96EM9

Explore the universe of human proteins at neXtProt for BTD: NX_P43251

Explore proteomics data for BTD at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P43251

  • 4/7 DME Specific Peptides for BTD (P43251) (see all 7)
     FTCFDILF  NLYFEAAFD  MFLVANLGTK  RYRKHNLYFE 

    BTD Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    BTD Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_000051.1  NP_001268652.1  NP_001268653.1  NP_001268654.1  NP_001268655.1  

    ENSEMBL proteins: 
     ENSP00000397113   ENSP00000403775   ENSP00000388212   ENSP00000306477   ENSP00000400995  
     ENSP00000394277   ENSP00000373288  
    Reactome Protein details: P43251
    Human Recombinant Protein Products for BTD: 
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    Novus Biologicals BTD Protein
    Novus Biologicals BTD Lysates
    Sino Biological Recombinant Protein for BTD
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for BTD 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IEA--
    GO:0005730nucleolus IEA--
    GO:0043204perikaryon IEA--
    GO:0045177apical part of cell IEA--

    BTD for ontologies           About GeneDecksing



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    Assay Products for BTD: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR003010 C-N_Hydrolase
     IPR012101 Biotinidase_euk

    Graphical View of Domain Structure for InterPro Entry P43251

    ProtoNet protein and cluster: P43251

    1 Blocks protein domain: IPB003010 Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase

    UniProtKB/Swiss-Prot: BTD_HUMAN, P43251
    Similarity: Belongs to the CN hydrolase family. BTD/VNN subfamily
    Similarity: Contains 1 CN hydrolase domain


    BTD for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BTD_HUMAN, P43251
    Function: Catalytic release of biotin from biocytin, the product of biotin-dependent carboxylases degradation
    Catalytic activity: Biotin amide + H(2)O = biotin + NH(3)

         Genatlas biochemistry entry for BTD:
    biotinidase,76.5kDa,microsomal,catalyzing the recycling of biotin

         Enzyme Numbers (IUBMB): EC 3.5.1.121 2 EC 3.5.12

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004075biotin carboxylase activity TAS7509806
    GO:0016810hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds ----
    GO:0016811hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides ----
    GO:0047708biotinidase activity IEA--
         
    BTD for ontologies           About GeneDecksing


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 1 allele(MGI details for Btd):
     behavior/neurological  growth/size  homeostasis/metabolism  integument  muscle 
     pigmentation  renal/urinary system  skeleton  vision/eye 

    BTD for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Btdtm1Bwol for BTD

       inGenious Targeting Laboratory - Custom generated mouse model solutions for BTD 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for BTD

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    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for BTD About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    2Metabolism of vitamins and cofactors
    Metabolism of water-soluble vitamins and cofactors1.00
    Metabolism of vitamins and cofactors1.00
    3Saturated fatty acid biosynthesis
    Biotin transport and metabolism0.30
    4Vitamin digestion and absorption
    Vitamin digestion and absorption
    5Biotin metabolism
    Biotin metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    4        Reactome Pathways for BTD
        Metabolism
    Biotin transport and metabolism
    Metabolism of vitamins and cofactors
    Metabolism of water-soluble vitamins and cofactors


    3         Kegg Pathways  (Kegg details for BTD):
        Biotin metabolism
    Metabolic pathways
    Vitamin digestion and absorption


    BTD for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BTD

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for BTD (ENSP000003064774) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HLCSENSP000003383874STRING: ENSP00000338387
    AASSENSP000003770404STRING: ENSP00000377040
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006766vitamin metabolic process TAS--
    GO:0006767water-soluble vitamin metabolic process TAS--
    GO:0006768biotin metabolic process TAS--
    GO:0006807nitrogen compound metabolic process ----
    GO:0007417central nervous system development TAS7550325

    BTD for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    BTD for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for BTD

    6 HMDB Compounds for BTD    About this table
    CompoundSynonyms CAS #PubMed Ids
    AmmoniaNH3 (see all 31)7664-41-7--
    BiocytinBiotinyl-L-lysine (see all 7)576-19-2--
    Biotin(+)-Biotin (see all 42)58-85-5--
    Biotin amidebiotin amide 6929-42-6--
    L-Lysine(+)-S-Lysine (see all 25)56-87-1--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    10/26 Novoseek inferred chemical compound relationships for BTD gene (see all 26)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    biotin 93.4 197 8930409 (7), 9350481 (4), 10708686 (4), 10064314 (4) (see all 99)
    biocytin 85.9 35 7758201 (4), 8593541 (2), 8930409 (2), 1776689 (2) (see all 24)
    biotinamide 74.7 4 11459467 (2), 17105231 (1), 1503382 (1)
    lipoyllysine 69.9 3 8811903 (2)
    3-methylcrotonyl-coa 68.4 1 16398167 (1)
    lysine 52 8 8593541 (1), 16772434 (1), 16704194 (1), 7550325 (1) (see all 8)
    streptavidin 51.3 1 12009950 (1)
    valproic acid 44.8 9 16682156 (2), 11737173 (2), 18922714 (1)
    acyl-coa 40.7 6 18289467 (1), 16735255 (1), 17616847 (1), 16398167 (1) (see all 5)
    sarcosine 38.3 1 17105231 (1)

    Search CenterWatch for drugs/clinical trials and news about BTD

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for BTD gene (5 alternative transcripts): 
    NM_000060.3  NM_001281723.1  NM_001281724.1  NM_001281725.1  NM_001281726.1  

    Unigene Cluster for BTD:

    Biotinidase
    Hs.517830  [show with all ESTs]
    Unigene Representative Sequence: AK301838
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000427382 ENST00000494021 ENST00000417015 ENST00000449107 ENST00000303498(uc011avv.2 uc003cah.3)
    ENST00000480711 ENST00000471964 ENST00000467027 ENST00000437172(uc011avw.2)
    ENST00000436193 ENST00000482824 ENST00000383778(uc011avx.2)
    miRNA
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    Additional mRNA sequence: 

    AK294301.1 AK297033.1 AK301838.1 AK313252.1 BC012099.1 U03274.1 

    10 DOTS entries:

    DT.99960980  DT.315966  DT.92442759  DT.91750173  DT.100685226  DT.100781977  DT.95167177  DT.101974633 
    DT.120886786  DT.95254025 

    24/169 AceView cDNA sequences (see all 169):

    AL523081 AU076889 AU103839 BP363684 BI871586 BM919775 AW301159 BM840185 
    BX646870 BI834207 CD358893 AU103834 AW611925 CB111882 BC012099 CB162703 
    CA432686 AA815077 AU103837 AI433865 BX382242 AL523080 BP344472 AI081313 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for BTD (see all 7)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8a · 8b · 8c
    SP1:              -     -     -                                                                           
    SP2:                                -     -     -                                   -                     
    SP3:              -     -     -     -     -     -                                   -                     
    SP4:                          -     -     -     -                                   -                     
    SP5:              -     -     -     -     -     -                                                         


    ECgene alternative splicing isoforms for BTD

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    BTD expression in normal human tissues (normalized intensities)      BTD embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    BTD Expression
    About this image


    BTD expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/6 selected tissues (see all 6) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Atrioventricular Canal Cells Atrioventricular Canal
             Outflow Tract
     
     Intestine (Gastrointestinal Tract)
             small intestine   
     
     Kidney (Urinary System)
             Metanephros
     
     Lower Urinary Tract (Urinary System)
             visceral organ   
     
     Brain (Nervous System)
             Myelinating Oligodendrocyte Cells Forebrain White Matter

    See BTD Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BTD

    SOURCE GeneReport for Unigene cluster: Hs.517830
        SABiosciences Custom PCR Arrays for BTD
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for BTD gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Btd1 , 5 biotinidase1, 5 83.49(n)1
    84.82(a)1
      14 (19.36 cM)5
    263631  NM_025295.41  NP_079571.11 
     316410285 
    chicken
    (Gallus gallus)
    Aves BTD1 biotinidase 65.02(n)
    63.37(a)
      420639  NM_001199624.1  NP_001186553.1 
    lizard
    (Anolis carolinensis)
    Reptilia BTD6
    Uncharacterized protein
    57(a)
    1 ↔ 1
    6(35329105-35332516)
    zebrafish
    (Danio rerio)
    Actinopterygii btd1 biotinidase 57.08(n)
    51.25(a)
      555376  NM_001045844.1  NP_001039309.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG35993
    Btd1
    Biotinidase1 29(a)
    (best of 2)3
    46.2(n)1
    35.15(a)1
      5E13
    315521  NM_132070.21  NP_572298.11 


    ENSEMBL Gene Tree for BTD (if available)
    TreeFam Gene Tree for BTD (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BTD gene
    VNN12  VNN22  VNN32  
    3 SIMAP similar genes for BTD using alignment to 8 protein entries:     BTD_HUMAN (see all proteins):
    VNN2    VNN1    VNN3

    BTD for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1150 SNPs in BTD are shown (see all 1150)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0051154
    Biotinidase deficiency (BTD deficiency)4--see VAR_0051152 D Y mis40--------
    VAR_0051184
    Biotinidase deficiency (BTD deficiency)4--see VAR_0051182 G D mis40--------
    VAR_0051214
    Biotinidase deficiency (BTD deficiency)4--see VAR_0051212 R C mis40--------
    VAR_0051134
    Biotinidase deficiency (BTD deficiency)4--see VAR_0051132 F V mis40--------
    VAR_0051164
    Biotinidase deficiency (BTD deficiency)4--see VAR_0051162 H R mis40--------
    rs130731391,2,4
    C,F,HBiotinidase deficiency (BTD deficiency)4 pathogenic115621423(+) TGGTGG/ACCAAT 2 /T /A mis1 ese37Minor allele frequency- A:0.00NS EA NA 412
    rs130788811,2,4
    C,F,HBiotinidase deficiency (BTD deficiency)4 pathogenic115622242(+) TCTTTG/CATGGG 2 /H /D mis1 ese311Minor allele frequency- C:0.03NS EA NA EU 6477
    rs803386851,2,4
    C,FBiotinidase deficiency (BTD deficiency)4 pathogenic115622280(+) ATCCAA/CGTGTG 2 Q H mis11Minor allele frequency- C:0.00NA 4552
    rs1048936881,2,4
    CBiotinidase deficiency (BTD deficiency)4 pathogenic115622507(+) GGTGAC/TGGCGG 2 T M mis11Minor allele frequency- T:0.00NA 4472
    rs1048936871,2
    Cpathogenic115612673(+) TCAGCC/TGCCAA 2 R C mis10--------

    HapMap Linkage Disequilibrium report for BTD (15642848 - 15687329 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for BTD: --

    Human Gene Mutation Database (HGMD): BTD

    Locus Specific Mutation Databases (LSDB): BTD
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing BTD
    DNA2.0 Custom Variant and Variant Library Synthesis for BTD

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609019   
    OMIM disorders: 253260  
    UniProtKB/Swiss-Prot: BTD_HUMAN, P43251
  • Biotinidase deficiency (BTD deficiency) [MIM:253260]: A juvenile form of multiple carboxylase deficiency,
    an autosomal recessive disorder of biotin metabolism, characterized by ketoacidosis, hyperammonemia, excretion of
    abnormal organic acid metabolites, and dermatitis. Biotinidase deficiency is characterized by seizures,
    hypotonia, skin rash, alopecia, ataxia, hearing loss, and optic atrophy. If untreated, symptoms usually become
    progressively worse, and coma and death may occur. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 20/61 diseases for BTD (see all 61):    About MalaCards
    biotinidase deficiency    multiple carboxylase deficiency    holocarboxylase synthetase deficiency    organic acidemia
    gastroenteritis    galactosemia    biotin-responsive basal ganglia disease    basal ganglia disease
    phenylketonuria    lipoprotein lipase deficiency    maple syrup urine disease    coffin-siris syndrome
    hemoglobinopathy    tyrosinemia    spinal cord disease    diabetic ketoacidosis
    acne    optic atrophy    congenital hypothyroidism    hypothyroidism

    4 diseases from the University of Copenhagen DISEASES database for BTD:
    Biotinidase deficiency     Holocarboxylase synthetase deficiency     Alopecia     Seborrheic dermatitis

    BTD for disorders           About GeneDecksing

    10/55 Novoseek inferred disease relationships for BTD gene (see all 55)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    biotinidase deficiency 99.6 501 12618081 (10), 7550325 (7), 1896047 (7), 18545994 (7) (see all 99)
    multiple carboxylase deficiency 94.8 9 2123277 (1), 9350481 (1), 12633764 (1), 15095958 (1) (see all 9)
    holocarboxylase synthetase deficiency 88.2 6 9492625 (2), 17274881 (1), 8053766 (1)
    maple syrup urine disease 78.9 11 12638945 (1), 16960984 (1), 1413809 (1), 18289467 (1) (see all 10)
    phenylketonurias 78.7 15 12766862 (2), 9689890 (1), 10891024 (1), 16960984 (1) (see all 13)
    aciduria organic 78.5 6 11952077 (3), 9350481 (1), 12633764 (1), 16783162 (1)
    galactosemias 78.3 12 12766862 (2), 10891024 (1), 1753440 (1), 1413809 (1) (see all 10)
    congenital hypothyroidism 72.6 10 12766862 (2), 10891024 (1), 16960984 (1), 16735255 (1) (see all 8)
    homocystinuria 72.2 10 12638945 (1), 8982947 (1), 1753440 (1), 1413809 (1) (see all 9)
    adrenal hyperplasia congenital 69.2 12 10891024 (1), 16960984 (1), 10844815 (1), 11728413 (1) (see all 11)

    Genatlas disease: BTD
    multiple carboxylase deficiency,late onset with feeding difficulties,hypotonia,seizures,lethargy, skin rash and
    metabolic acidosis,organic aciduria,biotinidase deficiency

    GeneTests: BTD
    GeneReviews: BTD
    Genetic Association Database (GAD): BTD
    Human Genome Epidemiology (HuGE) Navigator: BTD (4 documents)

    Export disorders for BTD gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for BTD gene, integrated from 9 sources (see all 241):
    (articles sorted by number of sources associating them with BTD)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency. (PubMed id 12618081)1, 4, 9 Dobrowolski S.F....Naylor E.W. (2003)
    2. Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene. (PubMed id 9654207)1, 2, 9 Swango K.L.... Wolf B. (1998)
    3. Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic children. (PubMed id 9099842)1, 2, 9 Pomponio R.J.... Wolf B. (1997)
    4. Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States. (PubMed id 10206677)1, 2, 9 Norrgard K.J.... Wolf B. (1998)
    5. Human serum biotinidase. cDNA cloning, sequence, and characterization. (PubMed id 7509806)1, 2, 9 Cole H.... Wolf B. (1994)
    6. Structure of the human biotinidase gene. (PubMed id 9530634)1, 2, 9 Knight H.C....Wolf B. (1998)
    7. Large-scale association analysis identifies 13 new su sceptibility loci for coronary artery disease. (PubMed id 21378990)1, 4 Schunkert H....Samani N.J. (2011)
    8. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (2005)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    10. Localization of serum biotinidase (BTD) to human chromosome 3 in band p25. (PubMed id 8001986)1, 3 Cole H....Wolf B. (1994)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 686 HGNC: 1122 AceView: BTD Ensembl:ENSG00000169814 euGenes: HUgn686
    ECgene: BTD Kegg: 686 H-InvDB: BTD

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for BTD Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BTD

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for BTD gene:
    Search GeneIP for patents involving BTD

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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