BTD (biotinidase)

2013-05-01  

Identity

HGNC
LOCATION
3p25.1
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 686
MIM: 609019
HGNC: 1122
Ensembl: ENSG00000169814

Variants:

dbSNP: 686
ClinVar: 686
TCGA: ENSG00000169814
COSMIC: BTD

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000169814ENST00000303498P43251
ENSG00000169814ENST00000383778P43251
ENSG00000169814ENST00000417015F8WCU5
ENSG00000169814ENST00000427382P43251
ENSG00000169814ENST00000436193C9JSN9
ENSG00000169814ENST00000437172P43251
ENSG00000169814ENST00000449107P43251
ENSG00000169814ENST00000482824A0A2R8Y5J9
ENSG00000169814ENST00000643237P43251
ENSG00000169814ENST00000646371P43251

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Biotin metabolismKEGGko00780
Biotin metabolismKEGGhsa00780
Metabolic pathwaysKEGGhsa01100
Vitamin digestion and absorptionKEGGko04977
Vitamin digestion and absorptionKEGGhsa04977
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Biotin transport and metabolismREACTOMER-HSA-196780

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
205392362010Technical standards and guidelines for the diagnosis of biotinidase deficiency.15
116686302001Mutations in BTD causing biotinidase deficiency.13
123591372002Seventeen novel mutations that cause profound biotinidase deficiency.7
157764122005Biotinidase deficiency: novel mutations and their biochemical and clinical correlates.6
205567952010Analysis of mutations causing biotinidase deficiency.6
229117232012Biotinidase is a novel marker for papillary thyroid cancer aggressiveness.6
251748162014Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients.6
126180812003Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency.5
257546252015Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening.5
197281412009Diagnosis, treatment, follow-up and gene mutation analysis in four Chinese children with biotinidase deficiency.4

Citation

Dessen P

BTD (biotinidase)

Atlas Genet Cytogenet Oncol Haematol. 2013-05-01

Online version: http://atlasgeneticsoncology.org/gene/53260/btd