Vous avez cherché: oksidaz (Turc - Anglais)

oksidaz
oxidoreductases

amin oksidaz
amine oxidase

sitokrom oksidaz
cytochrome c oxidase

sitokrom c oksidaz
cytochrome c oxidase

== genler ==kromozom 3'de bulunan genlerden bazıları şunlardır;* alas1: aminolevulinat, delta-, sentetaz 1* btd: biotinidaz* ccr5: kemokin (c-c motif) resepör 5* cpox: koproporfrinojen oksidaz (koproporfriya, harderoporfriya)* hgd: homojentisat 1,2-dioksigenaz (homojentizat oksidaz)* mccc1: metilkrotonoyl-koenzim a karboksilaz 1 (alfa)* mitf: mikroftalmia-associated transkripsiyon faktörü* mlh1: mutl homolog 1, kolon kanseri, poliptik olmayan tip 2 (e. coli)* pccb: propionil koenzim a karboksilaz, beta polipeptid* pdcd10: programlanmış hücre ölümü 10* pik3ca: fosfoinositid 3-kinaz, katalitik, alfa polipeptid* rab7: rab7, üye ras onkogen ailesi* scn5a: sodyum kanalı, voltaj kapısı, tip v, alfa (uzun qt sendromu 3)* slc25a20: çözünebilir taşıyıcı ailesi 25 (karnitin/asilkarnitin translokaz), üye 20* tmie: geçiş zarı iç kulak* ush3a: usher sendromu 3a* vhl: von hippel-lindau tümör baskılayıcı* znf9: çinko parmak protein 9== hastalıklar ==kromozom 3 üzerinde bulunan genlerin yol açtığı hastalıklardan bazıları şöyledir;* alkaptonüri* biotinidaz eksikliği* brugada sendromu* karnitin-asilkartinin translokaz eksikliği* serebral derin malformasyon* charcot-marie-tooth hastalığı* charcot-marie-tooth hastalığı, tip 2* hereditai koproporfriya* hereditari nonpolypozis kolorektal kanser]* 3-metilkrotonil-coa karboksikaz eksikliği* miyotonik distrofi* miyotonik distrofi, tip 2* sendromik olmayan sağırlık* sendromik olmayan sağırlık, otozomal çekinik* poryfriya* propionik asidemi* romano-ward sendromu* usher sendromu* usher syndrome tip iii* von hippel-lindau sendromu* waardenburg sendromu* otizim* gece körlüğü* sağırlık* hiv enfeksiyonu, duyarlı/dayanıklı* diabet* göğüs/kolon/akciğer/pankreas kanseri* usher sendromu/ usher sendromu (finlandiya)* yumurtalık kanseri* muir-torre ailevi kanser sendromu* glokom, ilk açık açı* essensial titretme* kısa boy* lökoensefalopati* harderoporfirinuria* spinoserebellar ataksia* moyamoya hastalığı* endplate asetlikolinesteraz eksikliği* hypobetalipoproteinemia, ailesi* septooptic dysplasia* uzun qt sendromu* katarakt* mukopolisakkaridozis* kalp tıkanması, aşamalı/aşamasız* malign hipertermia hassasiyeti* atransferrinemia* sükroz intolerans* serebral cavernous malformasyonu* nöropati, ırsi motor ve duyumsal, okinawa tip* protein s yetmezliği* t-hücresi lösemi translokasyon geç dönem geni* kseroderma pigmentosum, tamamlayıcı grup c* hailey-hailey hastalığı* koproporfyria* dopamin reseptörü* glikojen depolama hastalığı* arritmojenik sağ ventriküler displazi* pseudo-zellweger sendromu* blefarofimozis, epicantus inversus and ptosis type 1* lenfoma* metaplazel kondrodisplazi, murk jansen tipi* moebius sendromu* epidermolizis bullosa== düzensizlikleri ==* 3p kısmi trizomisi, kranio-fasial düzensizlikler ve mental gerilik ve düğümlü parmak izi karakteristiktir.
* mitf: microphthalmia-associated transcription factor* mlh1: mutl homolog 1, colon cancer, nonpolyposis type 2 (e. coli)* oxtr: oxytocin receptor* pthr1: parathyroid hormone receptor 1* scn5a: sodium channel, voltage-gated, type v, alpha (long qt syndrome 3)* slc25a20: solute carrier family 25 (carnitine/acylcarnitine translocase), member 20* tmie: transmembrane inner ear* vhl: von hippel-lindau tumor suppressor* foxp1: forkhead box protein p1* crbn: cereblon protein===q-arm===* adipoq: adiponectin* campd1: camptodactyly* cpox: coproporphyrinogen oxidase (coproporphyria, harderoporphyria)* hgd: homogentisate 1,2-dioxygenase (homogentisate oxidase)* ift122: intraflagellar transport gene 122* mccc1: methylcrotonoyl-coenzyme a carboxylase 1 (alpha)* pccb: propionyl coenzyme a carboxylase, beta polypeptide* pdcd10: programmed cell death 10* pik3ca: phosphoinositide-3-kinase, catalytic, alpha polypeptide* rab7: rab7, member ras oncogene family* rho: rhodopsin visual pigment* sox2: transcription factor* ush3a: usher syndrome 3a* znf9: zinc finger protein 9 (a cellular retroviral nucleic acid binding protein)==diseases & disorders==the following diseases are some of those related to genes on chromosome 3:* 3-methylcrotonyl-coa carboxylase deficiency* 3q29 microdeletion syndrome* alkaptonuria* arrhythmogenic right ventricular dysplasia* atransferrinemia* autism* biotinidase deficiency* blepharophimosis, epicanthus inversus and ptosis type 1* breast/colon/lung/pancreatic cancer* brugada syndrome* castillo fever* carnitine-acylcarnitine translocase deficiency* cataracts* cerebral cavernous malformation* charcot-marie-tooth disease, type 2* charcot-marie-tooth disease* chromosome 3q duplication syndrome* coproporphyria* dandy walker syndrome* deafness* diabetes* dopamine receptor* dystrophic epidermolysis bullosa* endplate acetlycholinesterase deficiency* essential tremors* glaucoma, primary open angle* glycogen storage disease* hailey-hailey disease* harderoporphyrinuria* heart block, progressive/nonprogressive* hereditary coproporphyria* hereditary nonpolyposis colorectal cancer* hiv infection, susceptibility/resistance to* hypobetalipoproteinemia, familial* hypothermia* leukoencephalopathy with vanishing white matter* long qt syndrome* lymphomas* malignant hyperthermia susceptibility* metaphyseal chondrodysplasia, murk jansen type* microcoria* moebius syndrome* moyamoya disease* mucopolysaccharidosis* muir-torre family cancer syndrome* myotonic dystrophy, type 2* myotonic dystrophy* neuropathy, hereditary motor and sensory, okinawa type* night blindness* nonsyndromic deafness, autosomal recessive* nonsyndromic deafness* ovarian cancer* porphyria* propionic acidemia* protein s deficiency* pseudo-zellweger syndrome* retinitis pigmentosa* romano-ward syndrome* seckel syndrome* sensenbrenner syndrome* septo-optic dysplasia* short stature* spinocerebellar ataxia* sucrose intolerance* t-cell leukemia translocation altered gene* usher syndrome type iii* usher syndrome (finland)* usher syndrome* von hippel-lindau syndrome* waardenburg syndrome* xeroderma pigmentosum, complementation group c==references==