ABCB4

The ATP-binding cassette 4 gene encodes the Multidrug resistance protein 3.[5][6][7] ABCB4 is associated with progressive familial intrahepatic cholestasis type 3.

ABCB4
Identifiers
AliasesABCB4, ABC21, GBD1, ICP3, MDR2, MDR2/3, MDR3, PFIC-3, PGY3, ATP binding cassette subfamily B member 4
External IDsOMIM: 171060 MGI: 97569 HomoloGene: 136368 GeneCards: ABCB4
EC number7.6.2.2
Gene location (Human)
Chr.Chromosome 7 (human)[1]
Band7q21.12Start87,401,697 bp[1]
End87,480,435 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

5244

18670

Ensembl

ENSG00000005471

ENSMUSG00000042476

UniProt

P21439

P21440

RefSeq (mRNA)

NM_000443
NM_018849
NM_018850

NM_008830

RefSeq (protein)

NP_000434
NP_061337
NP_061338

NP_032856

Location (UCSC)Chr 7: 87.4 – 87.48 MbChr 5: 8.89 – 8.96 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a full transporter and member of the p-glycoprotein family of membrane proteins with phosphatidylcholine as its substrate (flippase activity). The function of this protein has not yet been determined; however, it may involve transport of phospholipids from liver hepatocytes into bile. Alternative splicing of this gene results in several products of undetermined function.[7]

Cancer

ABCB4 gene has been observed progressively downregulated in Human papillomavirus-positive neoplastic keratinocytes derived from uterine cervical preneoplastic lesions at different levels of malignancy. [8] For this reason, ABCB4 is likely to be associated with tumorigenesis and may be a potential prognostic marker for uterine cervical preneoplastic lesions progression.[8]

Other conditions that have been associated with mutations in this gene include low phospholipid associated cholelithiasis syndrome, high gamma glutamyl transferase intrahepatic cholestasis of pregnancy, chronic cholangiopathy and adult biliary fibrosis.[9]

References
  1. GRCh38: Ensembl release 89: ENSG00000005471 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000042476 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Van der Bliek AM, Baas F, Ten Houte de Lange T, Kooiman PM, Van der Velde-Koerts T, Borst P (Mar 1988). "The human mdr3 gene encodes a novel P-glycoprotein homologue and gives rise to alternatively spliced mRNAs in liver". The EMBO Journal. 6 (11): 3325–31. PMC 553787. PMID 2892668.
  6. Rosmorduc O, Hermelin B, Poupon R (Apr 2001). "MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis". Gastroenterology. 120 (6): 1459–67. doi:10.1053/gast.2001.23947. PMID 11313316.
  7. "Entrez Gene: ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4".
  8. Rotondo JC, Bosi S, Bassi C, Ferracin M, Lanza G, Gafà R, Magri E, Selvatici R, Torresani S, Marci R, Garutti P, Negrini M, Tognon M, Martini F (April 2015). "Gene expression changes in progression of cervical neoplasia revealed by microarray analysis of cervical neoplastic keratinocytes". J Cell Physiol. 230 (4): 802–812. doi:10.1002/jcp.24808. PMID 25205602. S2CID 24986454.
  9. Sticova E, Jirsa M (2019) ABCB4 disease: Many faces of one gene deficiency. Ann Hepatol

Further reading
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