HADHA
gene da espécie Homo sapiens
Subunidade alfa da enzima trifuncional mitocondrial, também conhecida como hidroxiacil-CoA desidrogenase/3-cetoacil-CoA tiolase/enoyl-CoA hidratase (proteína trifuncional), a subunidade alfa é uma proteína que em humanos é codificada pelo gene HADHA.[2] Mutações no HADHA têm sido associadas à deficiência trifuncional de proteínas ou à deficiência de 3-hidroxiacil-coenzima A de desidrogenase de cadeia longa.[3]
Referências editar
Leitura adicional editar
- Rakheja D, Bennett MJ, Rogers BB (julho de 2002). «Long-chain L-3-hydroxyacyl-coenzyme a dehydrogenase deficiency: a molecular and biochemical review». Laboratory Investigation. 82 (7): 815–24. PMID 12118083. doi:10.1097/01.lab.0000021175.50201.46
- Isaacs JD, Sims HF, Powell CK, Bennett MJ, Hale DE, Treem WR, Strauss AW (setembro de 1996). «Maternal acute fatty liver of pregnancy associated with fetal trifunctional protein deficiency: molecular characterization of a novel maternal mutant allele». Pediatric Research. 40 (3): 393–8. PMID 8865274. doi:10.1203/00006450-199609000-00005
- Gillingham MB, Matern D, Harding CO (outubro de 2009). «Effect of feeding, exercise and genotype on plasma 3-hydroxyacylcarnitines in children with lchad deficiency». Topics in Clinical Nutrition. 24 (4): 359–365. PMC 2892921
. PMID 20589231. doi:10.1097/TIN.0b013e3181c62182 - Milewska M, McRedmond J, Byrne PC (novembro de 2009). «Identification of novel spartin-interactors shows spartin is a multifunctional protein». Journal of Neurochemistry. 111 (4): 1022–30. PMID 19765186. doi:10.1111/j.1471-4159.2009.06382.x
- Weekes J, Morrison K, Mullen A, Wait R, Barton P, Dunn MJ (fevereiro de 2003). «Hyperubiquitination of proteins in dilated cardiomyopathy». Proteomics. 3 (2): 208–16. PMID 12601813. doi:10.1002/pmic.200390029
- Bogenhagen DF, Rousseau D, Burke S (fevereiro de 2008). «The layered structure of human mitochondrial DNA nucleoids». Journal of Biological Chemistry. 283 (6): 3665–75. PMID 18063578. doi:10.1074/jbc.M708444200
- Zhang QX, Baldwin GS (outubro de 1994). «Structures of the human cDNA and gene encoding the 78 kDa gastrin-binding protein and of a related pseudogene». Biochimica et Biophysica Acta. 1219 (2): 567–75. PMID 7918661. doi:10.1016/0167-4781(94)90091-4
- IJlst L, Oostheim W, Ruiter JP, Wanders RJ (julho de 1997). «Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of two new mutations». Journal of Inherited Metabolic Disease. 20 (3): 420–2. PMID 9266371. doi:10.1023/A:1005310903004
- Yagi M, Lee T, Awano H, Tsuji M, Tajima G, Kobayashi H, Hasegawa Y, Yamaguchi S, Takeshima Y, Matsuo M (dezembro de 2011). «A patient with mitochondrial trifunctional protein deficiency due to the mutations in the HADHB gene showed recurrent myalgia since early childhood and was diagnosed in adolescence». Molecular Genetics and Metabolism. 104 (4): 556–9. PMID 22000755. doi:10.1016/j.ymgme.2011.09.025
