PANK2
Mitohondrijska pantotenat-kinaza 2 je enzim koji je kod ljudi kodiran genom PANK2.[5]
Ovaj gen kodira protein koji pripada porodici pantotenat-kinaza i jedini je član te porodice koji se eksprimira u mitohondrijama. Pantotenat-kinaza je ključni regulatorni enzim u biosintezi koenzima A (CoA) u bakterijama i ćelijama sisara. Katalizira prvi korak u univerzalnom biosintetskom putu koji vodi do CoA i sam podliježe regulaciji putem inhibicije povratne sprege tipova acil CoA. Mutacije u ovom genu povezane su s sindromom HARP i neurodegeneracijom povezane sa pantotenat-kinazom (PKAN). Alternativna prerada, uključujući upotrebu zamjenskih prvih egzona, rezultira u više transkripata koji kodiraju različite izoforme.[6]
Reference uredi
- ^ a b c GRCh38: Ensembl release 89: ENSG00000125779 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000037514 - Ensembl, maj 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Zhang, YM; O Rock, C; Jackowski, S (januar 2006). "Biochemical properties of human pantothenate kinase 2 isoforms and mutations linked to pantothenate kinase-associated neurodegeneration". The Journal of Biological Chemistry. 281 (1): 107–14. doi:10.1074/jbc.M508825200. PMID 16272150.
- ^ "Entrez Gene: PANK2 pantothenate kinase 2 (Hallervorden-Spatz syndrome)".
Dopunska literatura uredi
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- Zhang YH, Tang BS, Zhao AL, et al. (2005). "Novel compound heterozygous mutations in the PANK2 gene in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration". Mov. Disord. 20 (7): 819–21. doi:10.1002/mds.20408. PMC 2105744. PMID 15747360.
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- Rump P, Lemmink HH, Verschuuren-Bemelmans CC, et al. (2006). "A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration: evidence for a founder effect". Neurogenetics. 6 (4): 201–7. doi:10.1007/s10048-005-0018-9. PMC 2105745. PMID 16240131.