| Symbol
| ABCB1
| contributors: mct - updated : 07-09-2020
|
| HGNC name
| ATP-binding cassette, sub-family B (MDR/TAP), member 1
|
| HGNC id
| 40
|
| Other morbid association(s)
|
| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein 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 | |
| Susceptibility
|
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
|
| | |