Gene Symbol: ATP8B4
Description: ATPase phospholipid transporting 8B4 (putative)
Alias: ATPIM, ATPase, class I, type 8B, member 4, P4-ATPase flippase complex alpha subunit ATP8B4, potential phospholipid-transporting ATPase IM
Halleck M, Lawler JF J, Blackshaw S, Gao L, Nagarajan P, Hacker C, et al
. Differential expression of putative transbilayer amphipath transporters. Physiol Genomics. 1999;1:139-50 pubmed
..These results suggest that the genes are expressed in a tissue-specific manner, are not simply redundant, and may represent isoforms that transport a variety of different amphipaths...
Gao L, Emond M, Louie T, Cheadle C, Berger A, Rafaels N, et al
. Identification of Rare Variants in ATP8B4 as a Risk Factor for Systemic Sclerosis by Whole-Exome Sequencing. Arthritis Rheumatol. 2016;68:191-200 pubmed publisher
..The ATP8B4 gene was associated with a significant increase in the risk of SSc (Pâ€‰=â€‰2.77 Ã— 10(-7))...
van der Velden L, Wichers C, van Breevoort A, Coleman J, Molday R, Berger R, et al
. Heteromeric interactions required for abundance and subcellular localization of human CDC50 proteins and class 1 P4-ATPases. J Biol Chem. 2010;285:40088-96 pubmed publisher
..ATP8B1 and ATP8B2 co-immunoprecipitated with CDC50A and CDC50B, whereas ATP8B4, ATP8A1, and ATP8A2 associated only with CDC50A...
Ni I, Ching N, Meng C, Zakaria Z. Translocation t(11;14) (q13;q32) and genomic imbalances in multi-ethnic multiple myeloma patients: a Malaysian study. Hematol Rep. 2012;4:e19 pubmed publisher
..regions in our study, such as NAMPT, IVNS1ABP, IRF2BP2, PICALM, STAT1, STK17B, FBXL5, ACSL1, LAMP2, SAMSN1 and ATP8B4 might be potential prognostic markers and therapeutic targets in the treatment and management of multiple myeloma ..
Harris M, Arias I. FIC1, a P-type ATPase linked to cholestatic liver disease, has homologues (ATP8B2 and ATP8B3) expressed throughout the body. Biochim Biophys Acta. 2003;1633:127-31 pubmed
..Given that mutations in FIC1 result in liver disease, these proteins may have important roles in other organs in which they are candidates for genetic and acquired diseases. ..
Li H, Wetten S, Li L, St Jean P, Upmanyu R, Surh L, et al
. Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease. Arch Neurol. 2008;65:45-53 pubmed
..data set: RS7019241 (GOLPH2), RS10868366 (GOLPH2), RS9886784 (chromosome 9), and RS10519262 (intergenic between ATP8B4 and SLC27A2)...