BTD

GENE INFORMATION

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Gene name

BTD

Synonyms

Description

Biotinidase (HGNC Symbol)

Entrez gene summary

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]

Chromosome

3

Cytoband

p25.1

Chromosome location (bp)

15601341 - 15645822

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000169814 (version 78.38)

Entrez gene

686

UniProt

P43251 (UniProt - Evidence at protein level)

neXtProt

NX_P43251

Antibodypedia

BTD antibodies
 

PROTEIN VIEW

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BTD-001
 
BTD-002
 
BTD-003
 
BTD-004
 
BTD-009
 
BTD-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

BTD-001 ENSP00000306477
ENST00000303498
P43251
Show all »
Show » Show » 543 61.1 Yes 0
BTD-002 ENSP00000388212
ENST00000449107
P43251
Show all »
Show » Show » 545 61.3 No 0
BTD-003 ENSP00000400995
ENST00000437172
P43251
Show all »
Show » Show » 545 61.5 Yes 0
BTD-004 ENSP00000397113
ENST00000427382
C9J387
Show all »
Show » 59 6.3 Yes 0
BTD-009 ENSP00000394277
ENST00000436193
C9JSN9
Show all »
Show » Show » 251 28.6 Yes 0
BTD-201 ENSP00000373288
ENST00000383778
P43251
Show all »
Show » Show » 523 58.9 Yes 0