ABCB11


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ABCB11

A gene on chromosome 2q24 that encodes an ATP-binding cassette (ABC) transporter superfamily of integral membrane proteins, MDR/TAP subfamily, which is involved in multi-drug resistance and is major canalicular bile salt export pump
Molecular pathology ABCB11 mutations cause a type of progressive
familial intrahepatic cholestasis of early (infancy) onset.
References in periodicals archive ?
Ilerleyici ailevi karaciger ici kolestaz tip 2'de (PFIC-2) BSEP genindeki ABCB11 mutasyonuna bagli gelisen transport defekti vardir.
Immunohistochemistry showed an absence of the bile salt export pump protein, which is encoded by the ABCB11 gene [PFIC2, ATP-binding cassette, subfamily B (MDR/TAP), member 11].
In the patient with progressive intrahepatic cholestasis (case 2), array CGH detected a homozygous deletion at the ABCB11 locus on chromosome 2g31.
Furthermore, the molecular etiology of intrahepatic cholestasis may involve mutations in ATPSB1 (PFIC1), ABCB11 (PFIC2), or ABCB4 [PFIC3; ATP-binding cassette, sub-family B (MDR/ TAP), member 4].
Although the differentiation-dependent and sterol-regulated induction of ABCA1 and ABCG1 is well established (7), parallel transcript profiling, using our Human ABC Transporter TaqMan Low-Density Array, revealed several additional differentiation-dependent ABC transporters and novel LXR/RXR-regulated ABC transporters, including ABCB1 (MDR1), ABCB9, ABCB11 (BSEP), ABCC2 (MRP2), ABCC5 (MRP5), ABCD1 (ALD), ABCD4, and ABCG2.
ABCA3 in the lung, ABCB4 and ABCB11 in the liver and the testis, and ABCG5 and ABCG8 in the liver and the gut.
25 ng of HepG2 total RNA was created for all ABC transporters except ABCA6, ABCA8, ABCA9, ABCA10, ABCB11, ABCC1, and ABCC7.