请输入您要查询的百科知识：

　

词条 ABCA3
释义

  1. Clinical significance

  2. See also

  3. References

  4. Further reading

  5. External links

{{Infobox_gene}}ATP-binding cassette sub-family A member 3 is a protein that in humans is encoded by the ABCA3 gene.[1][2]

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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The full transporter encoded by this gene may be involved in development of resistance to xenobiotics and engulfment during programmed cell death.[2]

Clinical significance

Mutations in ABCA3 are associated to {{SWL|type=mutations_associated_to|target=cataract-microcornea syndrome|label=cataract-microcornea syndrome}}.[3]

It is associated with Surfactant metabolism dysfunction type 3.

See also

  • ATP-binding cassette transporter

References

1. ^{{cite journal |vauthors=Klugbauer N, Hofmann F | title = Primary structure of a novel ABC transporter with a chromosomal localization on the band encoding the multidrug resistance-associated protein | journal = FEBS Lett | volume = 391 | issue = 1–2 | pages = 61–5 |date=Sep 1996 | pmid = 8706931 | pmc = | doi =10.1016/0014-5793(96)00700-4 }}
2. ^1 {{cite web | title = Entrez Gene: ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=21| accessdate = }}
3. ^{{Cite journal | pmid = 25406294| year = 2014| author1 = Chen| first1 = P| title = Mutations in the ABCA3 gene are associated with cataract-microcornea syndrome| journal = Investigative Ophthalmology & Visual Science| last2 = Dai| first2 = Y| last3 = Wu| first3 = X| last4 = Wang| first4 = Y| last5 = Sun| first5 = S| last6 = Xiao| first6 = J| last7 = Zhang| first7 = Q| last8 = Guan| first8 = L| last9 = Zhao| first9 = X| last10 = Hao| first10 = X| last11 = Wu| first11 = R| last12 = Xie| first12 = L| doi = 10.1167/iovs.14-14098 | volume=55 | pages=8031–43}}

Further reading

{{refbegin | 2}}
  • {{cite journal |vauthors=Connors TD, Van Raay TJ, Petry LR |title=The cloning of a human ABC gene (ABC3) mapping to chromosome 16p13.3 |journal=Genomics |volume=39 |issue= 2 |pages= 231–4 |year= 1997 |pmid= 9027511 |doi= 10.1006/geno.1996.4500 |display-authors=etal}}
  • {{cite journal |vauthors=Yamano G, Funahashi H, Kawanami O |title=ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells |journal=FEBS Lett. |volume=508 |issue= 2 |pages= 221–5 |year= 2001 |pmid= 11718719 |doi=10.1016/S0014-5793(01)03056-3 |display-authors=etal}}
  • {{cite journal |vauthors=Mulugeta S, Gray JM, Notarfrancesco KL |title=Identification of LBM180, a lamellar body limiting membrane protein of alveolar type II cells, as the ABC transporter protein ABCA3 |journal=J. Biol. Chem. |volume=277 |issue= 25 |pages= 22147–55 |year= 2002 |pmid= 11940594 |doi= 10.1074/jbc.M201812200 |display-authors=etal}}
  • {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |display-authors=etal}}
  • {{cite journal |vauthors=Shulenin S, Nogee LM, Annilo T |title=ABCA3 gene mutations in newborns with fatal surfactant deficiency |journal=N. Engl. J. Med. |volume=350 |issue= 13 |pages= 1296–303 |year= 2004 |pmid= 15044640 |doi= 10.1056/NEJMoa032178 |display-authors=etal}}
  • {{cite journal |vauthors=Nagata K, Yamamoto A, Ban N |title=Human ABCA3, a product of a responsible gene for abca3 for fatal surfactant deficiency in newborns, exhibits unique ATP hydrolysis activity and generates intracellular multilamellar vesicles |journal=Biochem. Biophys. Res. Commun. |volume=324 |issue= 1 |pages= 262–8 |year= 2004 |pmid= 15465012 |doi= 10.1016/j.bbrc.2004.09.043 |display-authors=etal}}
  • {{cite journal |vauthors=Wulf GG, Modlich S, Inagaki N |title=ABC transporter ABCA3 is expressed in acute myeloid leukemia blast cells and participates in vesicular transport |journal=Haematologica |volume=89 |issue= 11 |pages= 1395–7 |year= 2006 |pmid= 15531465 |doi= |display-authors=etal}}
  • {{cite journal |vauthors=Kimura K, Wakamatsu A, Suzuki Y |title=Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406 | pmc=1356129 |display-authors=etal}}
  • {{cite journal |vauthors=Cheong N, Madesh M, Gonzales LW |title=Functional and trafficking defects in ATP binding cassette A3 mutants associated with respiratory distress syndrome |journal=J. Biol. Chem. |volume=281 |issue= 14 |pages= 9791–800 |year= 2006 |pmid= 16415354 |doi= 10.1074/jbc.M507515200 |display-authors=etal}}
  • {{cite journal |vauthors=Steinbach D, Gillet JP, Sauerbrey A |title=ABCA3 as a possible cause of drug resistance in childhood acute myeloid leukemia |journal=Clin. Cancer Res. |volume=12 |issue= 14 Pt 1 |pages= 4357–63 |year= 2007 |pmid= 16857811 |doi= 10.1158/1078-0432.CCR-05-2587 |display-authors=etal}}
  • {{cite journal |vauthors=Matsumura Y, Ban N, Ueda K, Inagaki N |title=Characterization and classification of ATP-binding cassette transporter ABCA3 mutants in fatal surfactant deficiency |journal=J. Biol. Chem. |volume=281 |issue= 45 |pages= 34503–14 |year= 2006 |pmid= 16959783 |doi= 10.1074/jbc.M600071200 }}
  • {{cite journal |vauthors=Piehler AP, Wenzel JJ, Olstad OK |title=The human ortholog of the rodent testis-specific ABC transporter Abca17 is a ubiquitously expressed pseudogene (ABCA17P) and shares a common 5' end with ABCA3 |journal=BMC Mol. Biol. |volume=7|pages= 28 |year= 2006 |pmid= 16968533 |doi= 10.1186/1471-2199-7-28 | pmc=1579226 |display-authors=etal}}
  • {{cite journal |vauthors=Saugstad OD, Hansen TW, Rønnestad A |title=Novel mutations in the gene encoding ATP binding cassette protein member A3 (ABCA3) resulting in fatal neonatal lung disease |journal=Acta Paediatr. |volume=96 |issue= 2 |pages= 185–90 |year= 2007 |pmid= 17429902 |doi=10.1111/j.1651-2227.2007.00016.x |display-authors=etal}}
  • {{cite journal |vauthors=Matsumura Y, Sakai H, Sasaki M |title=ABCA3-mediated choline-phospholipids uptake into intracellular vesicles in A549 cells |journal=FEBS Lett. |volume=581 |issue= 17 |pages= 3139–44 |year= 2007 |pmid= 17574245 |doi= 10.1016/j.febslet.2007.05.078 |display-authors=etal}}
  • {{cite journal |vauthors=Bullard JE, Nogee LM |title=Heterozygosity for ABCA3 mutations modifies the severity of lung disease associated with a surfactant protein C gene (SFTPC) mutation |journal=Pediatr. Res. |volume=62 |issue= 2 |pages= 176–9 |year= 2007 |pmid= 17597647 |doi= 10.1203/PDR.0b013e3180a72588 }}
{{refend}}

External links

  • {{MeshName|ABCA3+protein,+human}}
  • {{UCSC genome browser|ABCA3}}
  • {{UCSC gene details|ABCA3}}
{{NLM content}}{{ABC transporters}}{{DEFAULTSORT:Abca3}}{{membrane-protein-stub}}

1 : ABC transporters
随便看

　

开放百科全书收录14589846条英语、德语、日语等多语种百科知识，基本涵盖了大多数领域的百科知识，是一部内容自由、开放的电子版国际百科全书。

　

Copyright © 2023 OENC.NET All Rights Reserved
京ICP备2021023879号 更新时间：2024/11/12 3:05:20