ABCD3

位於1號人類染色體的基因

ATP结合盒转运蛋白亚族D成员3英语ATP-binding cassette subfamily D member 3)是一种在人类中由ABCD3基因编码的蛋白质[6][7][8]

ABCD3
识别号
别名ABCD3;, ABC43, PMP70, PXMP1, ZWS2, CBAS5, ATP binding cassette subfamily D member 3
外部IDOMIM170995 MGI1349216 HomoloGene2140 GeneCardsABCD3
相关疾病
congenital bile acid synthesis defect 5[1]
基因位置(人类
1号染色体
染色体1号染色体[2]
1号染色体
ABCD3的基因位置
ABCD3的基因位置
基因座1p21.3起始94,418,389 bp[2]
终止94,518,666 bp[2]
RNA表达模式
查阅更多表达数据
直系同源
物种人类小鼠
Entrez
Ensembl
UniProt
mRNA​序列

​NM_001122674
​NM_002858

NM_008991
​NM_001355756

蛋白序列

NP_001116146
​NP_002849

NP_033017
​NP_001342685

基因位置​(UCSC)Chr 1: 94.42 – 94.52 MbChr 3: 121.55 – 121.61 Mb
PubMed​查找[4][5]
维基数据
查看/编辑人类查看/编辑小鼠

功能

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由该基因编码的蛋白质是ATP结合盒转运蛋白(简称ABC转运蛋白)超家族的成员。ABC转运蛋白可跨细胞外膜和细胞内膜转运各种分子。ABC基因分为七个不同的亚家族(A、B、C、D、E、F、G)。这种蛋白质是D亚族(也叫ALD亚族)的成员,它参与细胞器中脂肪酸和/或脂酰辅酶A的过氧化物酶体输入。所有已知的过氧化物酶体ABC转运蛋白都是半转运蛋白,需要伴侣半转运蛋白分子来形成功能性同二聚体或异二聚体转运蛋白。这种过氧化物酶体膜蛋白可能在过氧化物酶体生物发生中起重要作用。

临床意义

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突变与某些形式的脑肝肾综合征有关,脑肝肾综合征是一组异质的过氧化物酶体组装障碍。[8]然而,这种关联被否认,[9]先天性胆汁酸合成缺陷5(CBAS5)则在最近被证明是由ABCD3基因的纯合突变引起的[10]

相互作用

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ABCD3已被证明能与PEX19相互作用[11][12][13][14]

参见

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参考资料

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  1. ^ 與ABCD3相關的疾病;在維基數據上查看/編輯參考. 
  2. ^ 2.0 2.1 2.2 GRCh38: Ensembl release 89: ENSG00000117528 - Ensembl, May 2017
  3. ^ 3.0 3.1 3.2 GRCm38: Ensembl release 89: ENSMUSG00000028127 - Ensembl, May 2017
  4. ^ Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine. 
  5. ^ Mouse PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine. 
  6. ^ Gärtner J, Moser H, Valle D. Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome. Nat Genet. June 1993, 1 (1): 16–23. PMID 1301993. S2CID 5779170. doi:10.1038/ng0492-16. 
  7. ^ Gärtner J, Kearns W, Rosenberg C, Pearson P, Copeland NG, Gilbert DJ, Jenkins NA, Valle D. Localization of the 70-kDa peroxisomal membrane protein to human 1p21-p22 and mouse 3. Genomics. April 1993, 15 (2): 412–4. PMID 8449508. doi:10.1006/geno.1993.1076 . 
  8. ^ 8.0 8.1 Entrez Gene: ABCD3 ATP-binding cassette, sub-family D (ALD), member 3. 
  9. ^ Paton, B. C.; Heron, S. E.; Nelson, P. V.; Morris, C. P.; Poulos, A. Absence of mutations raises doubts about the role of the 70-kD peroxisomal membrane protein in Zellweger syndrome. American Journal of Human Genetics. 1997, 60 (6): 1535–9. PMC 1716138 . PMID 9199576. doi:10.1016/S0002-9297(07)64247-5. 
  10. ^ Ferdinandusse, S.; Jimenez-Sanchez, G.; Koster, J.; Denis, S.; Van Roermund, C. W.; Silva-Zolezzi, I.; Moser, A. B.; Visser, W. F.; Gulluoglu, M.; Durmaz, O.; Demirkol, M.; Waterham, H. R.; Gökcay, G.; Wanders, R. J.; Valle, D. A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3. Human Molecular Genetics. 2015, 24 (2): 361–70. PMID 25168382. doi:10.1093/hmg/ddu448 . 
  11. ^ Mayerhofer PU, Kattenfeld T, Roscher AA, Muntau AC. Two splice variants of human PEX19 exhibit distinct functions in peroxisomal assembly. Biochem. Biophys. Res. Commun. March 2002, 291 (5): 1180–6. PMID 11883941. doi:10.1006/bbrc.2002.6568. 
  12. ^ Gloeckner CJ, Mayerhofer PU, Landgraf P, Muntau AC, Holzinger A, Gerber JK, Kammerer S, Adamski J, Roscher AA. Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p. Biochem. Biophys. Res. Commun. April 2000, 271 (1): 144–50. PMID 10777694. doi:10.1006/bbrc.2000.2572. 
  13. ^ Sacksteder KA, Jones JM, South ST, Li X, Liu Y, Gould SJ. PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis. J. Cell Biol. March 2000, 148 (5): 931–44. PMC 2174547 . PMID 10704444. doi:10.1083/jcb.148.5.931. 
  14. ^ Biermanns M, Gärtner J. Targeting elements in the amino-terminal part direct the human 70-kDa peroxisomal integral membrane protein (PMP70) to peroxisomes. Biochem. Biophys. Res. Commun. July 2001, 285 (3): 649–55. PMID 11453642. doi:10.1006/bbrc.2001.5220. 

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外部链接

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