Property Summary

NCBI Gene PubMed Count 43
Grant Count 22
R01 Count 14
Funding $19,150,722.5
PubMed Score 35.08
PubTator Score 442.39

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (9)

Disease log2 FC p
malignant mesothelioma 1.500 0.000
osteosarcoma -2.717 0.000
medulloblastoma, large-cell 1.400 0.000
pancreatic ductal adenocarcinoma liver m... -1.312 0.003
lung cancer 1.700 0.042
pilocytic astrocytoma 1.100 0.000
gastric carcinoma -1.300 0.040
ovarian cancer -1.300 0.000
pituitary cancer 1.600 0.000

Gene RIF (20)

PMID Text
25754625 The common biotinidase gene mutations (p.R157H, p.D444H, c.98-104del7ins3, p.T532M) cumulatively accounted for 72.3% of all the mutant alleles in the Turkish population.
25423671 Summary of the demographic features of patients identified as biotinidase deficient from August of 2012 through August of 2013 and mutation analysis results for 20 cases in the southeast region of Turkey.
25174816 Three novel pathogenic variants in BTD gene were identified in a cohort of Brazilian patients with biotinidase deficiency and control suggesting an allelic heteregeneity of the condition.
23481307 Mutation analysis revealed three novel mutations, c.del631C and c.1557T>G within exon 4 and c.324-325insTA in exon 3 in Biotinidase deficiency patients and families.
22911723 loss of overall biotinidase expression is a novel marker for thyroid cancer aggressiveness.
20556795 140 known mutations in the biotinidase gene (BTD) that cause biotinidase deficiency, are reported.
20549359 High frequencies of biotinidase mutations may explain the high incidence of biotinidase deficiency in Hungary.
20539236 Mutations in biotinidase is associated with biotinidase deficiency.
20532819 Plasma BTD activity increases in hepatic glycogen storage disease patients.
20224900 Report incidence of profound biotinase deficiency in Swedish newborns and adoptive immigrant children.
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AA Sequence

MAHAHIQGGRRAKSRFVVCIMSGARSKLALFLCGCYVVALGAHTGEESVADHHEAEYYVAAVYEHPSILS      1 - 70
LNPLALISRQEALELMNQNLDIYEQQVMTAAQKDVQIIVFPEDGIHGFNFTRTSIYPFLDFMPSPQVVRW     71 - 140
NPCLEPHRFNDTEVLQRLSCMAIRGDMFLVANLGTKEPCHSSDPRCPKDGRYQFNTNVVFSNNGTLVDRY    141 - 210
RKHNLYFEAAFDVPLKVDLITFDTPFAGRFGIFTCFDILFFDPAIRVLRDYKVKHVVYPTAWMNQLPLLA    211 - 280
AIEIQKAFAVAFGINVLAANVHHPVLGMTGSGIHTPLESFWYHDMENPKSHLIIAQVAKNPVGLIGAENA    281 - 350
TGETDPSHSKFLKILSGDPYCEKDAQEVHCDEATKWNVNAPPTFHSEMMYDNFTLVPVWGKEGYLHVCSN    351 - 420
GLCCYLLYERPTLSKELYALGVFDGLHTVHGTYYIQVCALVRCGGLGFDTCGQEITEATGIFEFHLWGNF    421 - 490
STSYIFPLFLTSGMTLEVPDQLGWENDHYFLRKSRLSSGLVTAALYGRLYERD                     491 - 543
//

Text Mined References (45)

PMID Year Title
25754625 2015 Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening.
25423671 2015 Mutations in BTD gene causing biotinidase deficiency: a regional report.
25174816 2014 Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23481307 2014 Biotinidase deficiency: novel mutations in Algerian patients.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
22911723 2012 Biotinidase is a novel marker for papillary thyroid cancer aggressiveness.
21378990 2011 Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
20556795 2010 Analysis of mutations causing biotinidase deficiency.
20549359 2010 High frequencies of biotinidase (BTD) gene mutations in the Hungarian population.
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