Gene: BACH1

Alternate names for this Gene: BACH-1|BTBD24

Gene Summary: This gene encodes a transcription factor that belongs to the cap'n'collar type of basic region leucine zipper factor family (CNC-bZip). The encoded protein contains broad complex, tramtrack, bric-a-brac/poxvirus and zinc finger (BTB/POZ) domains, which is atypical of CNC-bZip family members. These BTB/POZ domains facilitate protein-protein interactions and formation of homo- and/or hetero-oligomers. When this encoded protein forms a heterodimer with MafK, it functions as a repressor of Maf recognition element (MARE) and transcription is repressed. Multiple alternatively spliced transcript variants have been identified for this gene.

Gene is located in Chromosome: 21

Location in Chromosome : 21q21.3

Description of this Gene: BTB domain and CNC homolog 1

Type of Gene: protein-coding

rs2832283 in BACH1 gene and Body mass index PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

rs1153280 in BACH1 gene and Creatine kinase measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs1153280 in BACH1 gene and Malignant neoplasm of pancreas PMID 22158540 2011 Genome-wide association study identifies five loci associated with susceptibility to pancreatic cancer in Chinese populations.

rs372883 in BACH1 gene and Pancreatic carcinoma PMID 22158540 2011 Genome-wide association study identifies five loci associated with susceptibility to pancreatic cancer in Chinese populations.

rs2832357 in BACH1 gene and QT interval feature (observable entity) PMID 19587794 2009 Common genetic variation near the phospholamban gene is associated with cardiac repolarisation: meta-analysis of three genome-wide association studies.

rs2027605 in BACH1 gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2027605 in BACH1 gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.