PINK1 Information & PINK1 Links at HealthHaven.com

PTEN induced putative kinase 1
Identifiers
Symbols	PINK1; BRPK; FLJ27236; PARK6
External IDs	OMIM: 608309 MGI: 1916193 HomoloGene: 32672
Gene ontology
Molecular function	• nucleotide binding; • magnesium ion binding; • protein serine/threonine kinase activity; • ATP binding; • transferase activity;
Cellular component	• mitochondrion;
Biological process	• protein amino acid phosphorylation; • response to stress; • protein kinase cascade;
RNA expression pattern
	More reference expression data
Orthologs
NP_115785 (protein)	XP_995264 (protein)

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Serine/threonine-protein kinase PINK1, mitochondrial is an enzyme that in humans is encoded by the PINK1 gene.^[1]^[2]

This gene encodes a serine/threonine protein kinase that localizes to mitochondria. It is thought to protect cells from stress-induced mitochondrial dysfunction. Mutations in this gene cause one form of autosomal recessive early-onset Parkinson disease.^[3]

[edit] References

^ Unoki M, Nakamura Y (Aug 2001). "Growth-suppressive effects of BPOZ and EGR2, two genes involved in the PTEN signaling pathway". Oncogene 20 (33): 4457-65. doi:10.1038/sj.onc.1204608. PMID 11494141.
^ Valente EM, Salvi S, Ialongo T, Marongiu R, Elia AE, Caputo V, Romito L, Albanese A, Dallapiccola B, Bentivoglio AR (Sep 2004). "PINK1 mutations are associated with sporadic early-onset parkinsonism". Ann Neurol 56 (3): 336-41. doi:10.1002/ana.20256. PMID 15349860.
^ "Entrez Gene: PINK1 PTEN induced putative kinase 1". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=65018.

[edit] Further reading

Heutink P (2006). "PINK-1 and DJ-1--new genes for autosomal recessive Parkinson's disease.". J. Neural Transm. Suppl. 70 (70): 215–9. doi:10.1007/978-3-211-45295-0_33. PMID 17017532.
Valente EM, Bentivoglio AR, Dixon PH, et al. (2001). "Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36.". Am. J. Hum. Genet. 68 (4): 895–900. doi:10.1086/319522. PMID 11254447.
Khan NL, Valente EM, Bentivoglio AR, et al. (2002). "Clinical and subclinical dopaminergic dysfunction in PARK6-linked parkinsonism: an 18F-dopa PET study.". Ann. Neurol. 52 (6): 849–53. doi:10.1002/ana.10417. PMID 12447943.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
Bonifati V, Dekker MC, Vanacore N, et al. (2003). "Autosomal recessive early onset parkinsonism is linked to three loci: PARK2, PARK6, and PARK7.". Neurol. Sci. 23 Suppl 2: S59–60. doi:10.1007/s100720200069. PMID 12548343.
Valente EM, Brancati F, Caputo V, et al. (2003). "PARK6 is a common cause of familial parkinsonism.". Neurol. Sci. 23 Suppl 2: S117–8. doi:10.1007/s100720200097. PMID 12548371.
Nakajima A, Kataoka K, Hong M, et al. (2004). "BRPK, a novel protein kinase showing increased expression in mouse cancer cell lines with higher metastatic potential.". Cancer Lett. 201 (2): 195–201. doi:10.1016/S0304-3835(03)00443-9. PMID 14607334.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Valente EM, Abou-Sleiman PM, Caputo V, et al. (2004). "Hereditary early-onset Parkinson's disease caused by mutations in PINK1.". Science 304 (5674): 1158–60. doi:10.1126/science.1096284. PMID 15087508.
Healy DG, Abou-Sleiman PM, Ahmadi KR, et al. (2004). "The gene responsible for PARK6 Parkinson's disease, PINK1, does not influence common forms of parkinsonism.". Ann. Neurol. 56 (3): 329–35. doi:10.1002/ana.20206. PMID 15349859.
Hatano Y, Li Y, Sato K, et al. (2004). "Novel PINK1 mutations in early-onset parkinsonism.". Ann. Neurol. 56 (3): 424–7. doi:10.1002/ana.20251. PMID 15349870.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
Hatano Y, Sato K, Elibol B, et al. (2006). "PARK6-linked autosomal recessive early-onset parkinsonism in Asian populations.". Neurology 63 (8): 1482–5. PMID 15505170.
Healy DG, Abou-Sleiman PM, Gibson JM, et al. (2006). "PINK1 (PARK6) associated Parkinson disease in Ireland.". Neurology 63 (8): 1486–8. PMID 15505171.
Rogaeva E, Johnson J, Lang AE, et al. (2005). "Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease.". Arch. Neurol. 61 (12): 1898–904. doi:10.1001/archneur.61.12.1898. PMID 15596610.
Beilina A, Van Der Brug M, Ahmad R, et al. (2005). "Mutations in PTEN-induced putative kinase 1 associated with recessive parkinsonism have differential effects on protein stability.". Proc. Natl. Acad. Sci. U.S.A. 102 (16): 5703–8. doi:10.1073/pnas.0500617102. PMID 15824318.
Deng H, Le WD, Zhang X, et al. (2005). "G309D and W437OPA PINK1 mutations in Caucasian Parkinson's disease patients.". Acta Neurol. Scand. 111 (6): 351–2. doi:10.1111/j.1600-0404.2005.00383.x. PMID 15876334.
Li Y, Tomiyama H, Sato K, et al. (2005). "Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism.". Neurology 64 (11): 1955–7. doi:10.1212/01.WNL.0000164009.36740.4E. PMID 15955953.

This article on a gene on chromosome 1 is a stub. You can help Wikipedia by expanding it.

[pmid11494141-0] Unoki M, Nakamura Y (Aug 2001). "Growth-suppressive effects of BPOZ and EGR2, two genes involved in the PTEN signaling pathway". Oncogene 20 (33): 4457-65. doi:10.1038/sj.onc.1204608. PMID 11494141.

[pmid15349860-1] Valente EM, Salvi S, Ialongo T, Marongiu R, Elia AE, Caputo V, Romito L, Albanese A, Dallapiccola B, Bentivoglio AR (Sep 2004). "PINK1 mutations are associated with sporadic early-onset parkinsonism". Ann Neurol 56 (3): 336-41. doi:10.1002/ana.20256. PMID 15349860.

[entrez-2] "Entrez Gene: PINK1 PTEN induced putative kinase 1". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=65018.

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