검색어: porphyria (터키어 - 영어)

oliva porphyria
oliva porphyria

== genler ==kromozom 11 üzerinde bulunan genlerden bazıları:* acat1: asetil koenzim a asetiltransferaz 1* atm: ataksia telangiectasia mutated* cpt1a: carnitine palmitoyltransferaz 1a* dhcr7: 7-dehidrokolestrol redüktaz* hbb: hemoglobin, beta* hmbs: hidroksimetilbilanesentetaz* hras: v-ha-ras harvey rat sarkoma viral onkogen homolog* kcnq1: potasyum voltaj-kapı kanalı* men1: multipl endokrin neoplazi i* mtmr2: myotubularin related protein 2* myo7a: myosin viia* pax6* pts: 6-piruvoiltetrahidropterin sentetaz* saa1: serum amyloid a1* sbf2: set binding factor 2* smpd1: sphingomyelin phosphodiesterase 1, acid lysosomal (acid sphingomyelinase)* tecta: tectorin alpha (nonsyndromic deafness)* ush1c: usher sendromu 1c (otozomal çekinik, severe)== hastalıklar ==kromozom 11 üzerinde bulunan genlerle ilgili olan hastalıkların bazıları:* aniridia* akut intermittent porphyria* ataksia-telangiectasia* beta-ketothiolaz yetmezliği* beta talasemi* mesane kanseri* göğüs kanseri* karnitin palmitoyltransferaz i yetmezliği* charcot-marie-tooth hastalığı* charcot-marie-tooth hastalığı, tip 4* ailevi akdeniz ateşi* jacobsen sendromu* jervell ve lange-nielsen sendromu* meckel sendromu* methemoglobinemi, beta-globin tip* multiple endokrin neoplazi tip 1* niemann-pick hastalığı* sendromik olmayan sağırlık* sendromik olmayan sağırlık, otozomal baskın* sendromik olmayan sağırlık, otozomal çekinik* porphyria* romano-ward sendromu* orak hücreli anemi* smith-lemli-opitz sendromu* tetrahidrobiopterin yetmezliği* usher sendromu* usher sendromu tip i* wagr sendromu
==genes==the following are some of the genes located on chromosome 11:* acat1: acetyl-coenzyme a acetyltransferase 1 (acetoacetyl coenzyme a thiolase)* aplnr: apelin receptor (apj receptor)* apoa4: apolipoprotein a-iv* atm: ataxia telangiectasia mutated (includes complementation groups a, c and d)* bdnf:secretes bdnf, a member of the neurotrophin family of proteins* ccl9: chemokine (c-c motif) ligand 9* cd81* c11orf1* cpt1a: carnitine palmitoyltransferase 1a (liver)* dhcr7: 7-dehydrocholesterol reductase* hbb: hemoglobin, beta* hmbs: hydroxymethylbilane viia* ins: insulin gene* mmp7: matrix metalloproteinases (mmp family)* men1: multiple endocrine neoplasia type 1* pax6* pts: 6-pyruvoyltetrahydropterin synthase* saa1: serum amyloid a1* sbf2: set binding factor 2* smpd1: sphingomyelin phosphodiesterase 1, acid lysosomal (acid sphingomyelinase)* tecta: tectorin alpha (nonsyndromic deafness)* th: tyrosine hydroxylase* ush1c: usher syndrome 1c (autosomal recessive, severe)* wt1: wilms tumor protein* rag1/rag2: recombination activating genes==diseases & disorders==the following diseases are some of those related to genes on chromosome 11:* autism (neurexin 1)* annidraedea* acute intermittent porphyria* albinism* ataxia-telangiectasia* beckwith-wiedemann syndrome* best's disease* beta-ketothiolase deficiency* beta thalassemia* bladder cancer* breast cancer* carnitine palmitoyltransferase i deficiency* charcot-marie-tooth disease* charcot-marie-tooth disease, type 4*cystic fibrosis*depression* denys-drash syndrome* familial mediterranean fever* hereditary angioedema* jacobsen syndrome* jervell and lange-nielsen syndrome* mantle cell lymphoma (t11;14)* meckel syndrome* methemoglobinemia, beta-globin type* mixed lineage leukemia* multiple endocrine neoplasia type 1* hereditary multiple exostoses* niemann-pick disease* nonsyndromic deafness* nonsyndromic deafness, autosomal dominant* nonsyndromic deafness, autosomal recessive* porphyria* potocki-shaffer syndrome* romano-ward syndrome* sickle cell anemia* smith-lemli-opitz syndrome* tetrahydrobiopterin deficiency* usher syndrome* usher syndrome type i* wagr syndrome* wilms' tumor==references==