Familial intrahepatic cholestasis (FIC) comprises a group of rare cholestatic liver diseases associated with canalicular transport defects resulting predominantly from mutations in ATP8B1, ABCB11 and ABCB4.
A panel of genes included ABCB4, ABCB11 and ATP8B1 genes.
ABCB4 and ABCB11
mutations in intrahepatic cholestasis of pregnancy in an Italian population.
Bile salt export pump (BSEP) is a liver-specific ATP-binding cassette transporter encoded by the ABCB11
gene, which is expressed exclusively in the liver canalicular membrane and involved with bile acid transport.
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.
Their function requires significant energy expenditure in the form of adenosine triphosphate (ATP), and most transporters belong to the ATP-binding cassette (ABC) transporter superfamily such as ATP8B1 (ATPase class I type 8B1), ABCB11 (ABC, subfamily B, member 11), and ABCB4 (ABC, subfamily B, member 4), all of which are responsible for 3 types of PFIC, respectively.
Genetic analysis of patients with PFIC has identified mutations in 3 genes, including ATP8B1 (ATPase class I type 8B1), ABCB11 (ABC, subfamily B, member 11), and ABCB4 (ABC, subfamily B, member 4), that encode 3 key canalicular proteins namely FIC1, BSEP, and MDR3, respectively.
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.