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词条 UQCC2
释义

  1. Structure

  2. Function

  3. Clinical Significance

  4. Interactions

  5. References

  6. Further reading

{{Infobox gene}}Ubiquinol-cytochrome c reductase complex assembly factor 2 is a protein that in humans is encoded by the UQCC2 gene. Located in the mitochondrial nucleoid, this protein is a complex III assembly factor, playing a role in cytochrome b biogenesis along with the UQCC1 protein.[1] It regulates insulin secretion and mitochondrial ATP production and oxygen consumption.[2][3] In the sole recorded case, a mutation in the UQCC2 gene caused Complex III deficiency, characterized by intrauterine growth retardation, neonatal lactic acidosis, and renal tubular dysfunction.[4]

Structure

The UQCC2 gene is located on the p arm of chromosome 6 in position 21.31 and spans 14,990 base pairs.[1] The gene produces a 14.9 kDa protein composed of 126 amino acids.[5][6] This protein has no homologous domains with other known proteins. It is associated with the mitochondrial nucleoid, likely located in the peripheral region.[3] This protein's distribution pattern is similar to other components of the mitochondrial nucleoid, like mtSSB and PHB1/PHB2.[7]

Function

This gene encodes a nucleoid protein localized to the mitochondrial inner membrane and sublocalized to the mitochondrial matrix.[7] The encoded protein permissively regulates insulin secretion in pancreatic beta cells, positively regulates mitochondrial ATP production and oxygen consumption, and is involved in late skeletal muscle differentiation through modulation of mitochondrial respiratory chain activity.[3] This protein is required for the assembly of the Complex III. Expression of this protein is decreased in cells with low mtDNA.[7]

Clinical Significance

In the sole recorded case, a homozygous mutation in intron 2 of the UQCC2 gene caused a splicing disruption; the patient presented with symptoms of nuclear type 7 Complex III deficiency, including neonatal lactic acidosis, renal tubulopathy, and severe intrauterine growth retardation. Additional clinical features included a dysmorphic facial appearance, delayed psychomotor development, autistic features, aggressive behavior, and mild sensorineural hearing loss.[2] Additionally, the patient had decreased levels of UQCC1.[4]

Interactions

This protein interacts with UQCC1.[2]

References

1. ^1 {{cite web|url=https://www.ncbi.nlm.nih.gov/gene/84300|title=Entrez Gene: Ubiquinol-cytochrome c reductase complex assembly factor 2|access-date=2018-08-02}}{{PD-notice}}
2. ^1 2 {{Cite web|url=https://www.uniprot.org/uniprot/Q9BRT2#interaction|title=UQCC2 - Ubiquinol-cytochrome-c reductase complex assembly factor 2 precursor - Homo sapiens (Human) - UQCC2 gene & protein|website=www.uniprot.org|language=en|access-date=2018-08-03}}{{PD-notice}}
3. ^1 2 {{cite journal | vauthors = Cambier L, Rassam P, Chabi B, Mezghenna K, Gross R, Eveno E, Auffray C, Wrutniak-Cabello C, Lajoix AD, Pomiès P | title = M19 modulates skeletal muscle differentiation and insulin secretion in pancreatic β-cells through modulation of respiratory chain activity | journal = PLOS One | volume = 7 | issue = 2 | pages = e31815 | date = 2012-02-20 | pmid = 22363741 | pmc = 3282743 | doi = 10.1371/journal.pone.0031815 | url = http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0031815 }}
4. ^1 {{cite journal | vauthors = Tucker EJ, Wanschers BF, Szklarczyk R, Mountford HS, Wijeyeratne XW, van den Brand MA, Leenders AM, Rodenburg RJ, Reljić B, Compton AG, Frazier AE, Bruno DL, Christodoulou J, Endo H, Ryan MT, Nijtmans LG, Huynen MA, Thorburn DR | title = Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression | journal = PLoS Genetics | volume = 9 | issue = 12 | pages = e1004034 | date = 2013-12-26 | pmid = 24385928 | pmc = 3873243 | doi = 10.1371/journal.pgen.1004034 }}
5. ^{{cite journal | vauthors = Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, Deng N, Kim AK, Choi JH, Zelaya I, Liem D, Meyer D, Odeberg J, Fang C, Lu HJ, Xu T, Weiss J, Duan H, Uhlen M, Yates JR, Apweiler R, Ge J, Hermjakob H, Ping P | title = Integration of cardiac proteome biology and medicine by a specialized knowledgebase | journal = Circulation Research | volume = 113 | issue = 9 | pages = 1043–53 | date = October 2013 | pmid = 23965338 | pmc = 4076475 | doi = 10.1161/CIRCRESAHA.113.301151 }}
6. ^{{cite web|url=https://amino.heartproteome.org/web/protein/Q9BRT2|title=UQCC2 - Ubiquinol-cytochrome-c reductase complex assembly factor 2|work=Cardiac Organellar Protein Atlas Knowledgebase (COPaKB)}}
7. ^1 2 {{cite journal | vauthors = Sumitani M, Kasashima K, Ohta E, Kang D, Endo H | title = Association of a novel mitochondrial protein M19 with mitochondrial nucleoids | journal = Journal of Biochemistry | volume = 146 | issue = 5 | pages = 725–32 | date = November 2009 | pmid = 19643811 | doi = 10.1093/jb/mvp118 | url = https://doi.org/10.1093/jb/mvp118 }}

Further reading

{{refbegin|32em}}
  • {{cite journal | vauthors = Sumitani M, Kasashima K, Ohta E, Kang D, Endo H | title = Association of a novel mitochondrial protein M19 with mitochondrial nucleoids | journal = Journal of Biochemistry | volume = 146 | issue = 5 | pages = 725–32 | date = November 2009 | pmid = 19643811 | doi = 10.1093/jb/mvp118 }}
  • {{cite journal | vauthors = Barcellos LF, May SL, Ramsay PP, Quach HL, Lane JA, Nititham J, Noble JA, Taylor KE, Quach DL, Chung SA, Kelly JA, Moser KL, Behrens TW, Seldin MF, Thomson G, Harley JB, Gaffney PM, Criswell LA | title = High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions | journal = PLoS Genetics | volume = 5 | issue = 10 | pages = e1000696 | date = October 2009 | pmid = 19851445 | pmc = 2758598 | doi = 10.1371/journal.pgen.1000696 }}
  • {{cite journal | vauthors = Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ | title = Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression | journal = PLOS One | volume = 5 | issue = 9 | pages = e12862 | date = September 2010 | pmid = 20877624 | pmc = 2943476 | doi = 10.1371/journal.pone.0012862 }}
  • {{cite journal | vauthors = Calvo SE, Compton AG, Hershman SG, Lim SC, Lieber DS, Tucker EJ, Laskowski A, Garone C, Liu S, Jaffe DB, Christodoulou J, Fletcher JM, Bruno DL, Goldblatt J, Dimauro S, Thorburn DR, Mootha VK | title = Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing | journal = Science Translational Medicine | volume = 4 | issue = 118 | pages = 118ra10 | date = January 2012 | pmid = 22277967 | pmc = 3523805 | doi = 10.1126/scitranslmed.3003310 }}
  • {{cite journal | vauthors = Cambier L, Rassam P, Chabi B, Mezghenna K, Gross R, Eveno E, Auffray C, Wrutniak-Cabello C, Lajoix AD, Pomiès P | title = M19 modulates skeletal muscle differentiation and insulin secretion in pancreatic β-cells through modulation of respiratory chain activity | journal = PLOS One | volume = 7 | issue = 2 | pages = e31815 | date = 2012 | pmid = 22363741 | pmc = 3282743 | doi = 10.1371/journal.pone.0031815 }}
  • {{cite journal | vauthors = Tucker EJ, Wanschers BF, Szklarczyk R, Mountford HS, Wijeyeratne XW, van den Brand MA, Leenders AM, Rodenburg RJ, Reljić B, Compton AG, Frazier AE, Bruno DL, Christodoulou J, Endo H, Ryan MT, Nijtmans LG, Huynen MA, Thorburn DR | title = Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression | journal = PLoS Genetics | volume = 9 | issue = 12 | pages = e1004034 | date = 2013 | pmid = 24385928 | pmc = 3873243 | doi = 10.1371/journal.pgen.1004034 }}
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