Gene: ABCB5

Alternate names for this Gene: ABCB5alpha|ABCB5beta|EST422562

Gene Summary: ABCB5 belongs to the ATP-binding cassette (ABC) transporter superfamily of integral membrane proteins. These proteins participate in ATP-dependent transmembrane transport of structurally diverse molecules ranging from small ions, sugars, and peptides to more complex organic molecules (Chen et al., 2005 [PubMed 15760339]).[supplied by OMIM, Mar 2008].

Gene is located in Chromosome: 7

Location in Chromosome : 7p21.1

Description of this Gene: ATP binding cassette subfamily B member 5

Type of Gene: protein-coding

rs10236314 in ABCB5 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs73276602 in ABCB5 gene and Electrocardiogram: P-R interval PMID 24324551 2013 Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.