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Symbol ABCB1 contributors: mct - updated : 07-09-2020
HGNC name ATP-binding cassette, sub-family B (MDR/TAP), member 1
HGNC id 40
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral   amplification    
amplified in sarcoma cell lines
tumoral     --over  
in acute myeloid leukemia and cancer cell lines
tumoral     --low  
low ABCB1/low BAALC expression identifies a subgroup of intermediate cytogenetic risk AML patients with a remarkably good long-term outcome achieved by chemotherapy alone
tumoral     --low  
in breast tumors was associated with triple-negative subtype
tumoral     --low  
may promote colorectal carcinogenesis through increasing intracellular exposure to carcinogenic ABCB1 substrates
  • to inflammatory bowel disease(IBD)
  • to renal epithelial tumors
  • Variant & Polymorphism other Ala893 increases the risk of IBD
    C3435T increases the risk of renal tumors
    Candidate gene
    Marker EPS8, as ABCB1 and WT1, may be a clinically valuable biomarker for assessing the outcome of acute lymphoblastic leukemia (ALL) patients
    Therapy target