Entity Details

Primary name BDP1
Entity type gene
Source Source Link

Details

PrimaryID55814
RefseqGeneNG_047017
SymbolBDP1
NameB double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB
Chromosome5
Location5q13.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-03-15
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsBDP1_HUMAN

GO terms

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GOName
GO:0000126 transcription factor TFIIIB complex
GO:0001156 TFIIIC-class transcription factor complex binding
GO:0005654 nucleoplasm
GO:0070898 RNA polymerase III preinitiation complex assembly

Diseases

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Disease IDSourceNameDescription
618257 OMIMDeafness, autosomal recessive, 112 (DFNB112)A form of non-syndromic, sensorineural deafness characterized by postlingual progressive hearing impairment. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. The disease may be caused by variants affecting the gene represented in this entry.