RecName: Full=Phosphatidylcholine translocator ABCB4; AltName: Full=AT - Protein

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Clinical and genetic study of ABCB4 gene-related cholestatic liver disease in China: children and adults. [Orphanet J Rare Dis. 2024]
Clinical and genetic study of ABCB4 gene-related cholestatic liver disease in China: children and adults.
Cao L, Ling X, Yan J, Feng D, Dong Y, Xu Z, Wang F, Zhu S, Gao Y, Cao Z, et al. Orphanet J Rare Dis. 2024 Apr 12; 19(1):157. Epub 2024 Apr 12.
Clinical outcomes of ABCB4 heterozygosity in infants and children with cholestatic liver disease. [J Pediatr Gastroenterol Nutr. ...]
Clinical outcomes of ABCB4 heterozygosity in infants and children with cholestatic liver disease.
Hegarty R, Gurra O, Tarawally J, Allouni S, Rahman O, Strautnieks S, Kyrana E, Hadzic N, Thompson RJ, Grammatikopoulos T. J Pediatr Gastroenterol Nutr. 2024 Feb; 78(2):339-349. Epub 2023 Dec 12.
A novel heterozygous deletion in ABCB4 gene in a Chinese family with intrahepatic cholestasis of pregnancy, neonatal hyperbilirubinemia, and cholelithiasis: Case reports and literature review. [Mol Genet Genomic Med. 2024]
A novel heterozygous deletion in ABCB4 gene in a Chinese family with intrahepatic cholestasis of pregnancy, neonatal hyperbilirubinemia, and cholelithiasis: Case reports and literature review.
Zheng Y, Rao Q, Han Y, He J. Mol Genet Genomic Med. 2024 Jan; 12(1):e2291. Epub 2023 Oct 3.

RefSeq genomic sequence
See the genomic reference sequence for the ABCB4 gene (NG_007118.3).
RefSeq protein isoforms
See 13 reference sequence protein isoforms for the ABCB4 gene.

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P21439 [Domain Mapping of Disease Mut...]
P21439
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
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Protein