Gene: BTBD1

Alternate names for this Gene: C15orf1|NS5ATP8

Gene Summary: The C-terminus of the protein encoded by this gene binds topoisomerase I. The N-terminus contains a proline-rich region and a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox virus and Zinc finger), both of which are typically involved in protein-protein interactions. Subcellularly, the protein localizes to cytoplasmic bodies. Alternative splicing results in multiple transcript variants encoding different isoforms.

Gene is located in Chromosome: 15

Location in Chromosome : 15q25.2

Description of this Gene: BTB domain containing 1

Type of Gene: protein-coding

rs7181169 in BTBD1 gene and Chronic Obstructive Airway Disease PMID 30804561 2019 Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations.

rs17507300 in BTBD1 gene and Glomerular Filtration Rate PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.