Kromozom 7
Vikipedi, özgür ansiklopedi
Kromozom 7, 22 çift otozomal insan kromozomlarından 7. olanıdır. İnsanlarda normalde bir çift halinde bulunur. 158 milyon baz çiftine ve toplam hücre DNA'sının %5 ya da %5,5'ine sahiptir. Kromozom 7 muhtemelen 1,000 ile 1,400 arasında gen içermektedir.
[değiştir] Genler
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[değiştir] Genes
The following are some of the genes located on chromosome 7:
- ASL: argininosuccinate lyase
- CCM2: cerebral cavernous malformation 2
- CGRP-RCP: calcitonin gene-related peptide receptor component protein
- CFTR: cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)
- COL1A2: collagen, type I, alpha 2
- CYLN2: cytoplasmic linker 2
- DFNA5: deafness, autosomal dominant 5
- DLD: dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)
- ELN: elastin (supravalvular aortic stenosis, Williams-Beuren syndrome)
- GARS: glycyl-tRNA synthetase
- GTF2I: general transcription factor II, i
- GTF2IRD1: GTF2I repeat domain containing 1
- GUSB: beta-glucuronidase
- HSPB1: heat shock 27kDa protein 1
- KCNH2: potassium voltage-gated channel, subfamily H (eag-related), member 2
- KRIT1: KRIT1, ankyrin repeat containing
- LIMK1: LIM domain kinase 1
- p47 phox or NCF1: 47 kDa neutrophil oxidase factor / neutrophil cytosol factor 1
- PMS2: PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
- SBDS: Shwachman-Bodian-Diamond syndrome
- SLC25A13: solute carrier family 25, member 13 (citrin)
- SLC26A4: solute carrier family 26, member 4
- TFR2: transferrin receptor 2
- TPST1: tyrosylprotein sulfotransferase 1
[değiştir] Diseases
The following diseases are some of those related to genes on chromosome 7:
- argininosuccinic aciduria
- Aspergers Syndrome
- cerebral cavernous malformation
- Charcot-Marie-Tooth disease
- Charcot-Marie-Tooth disease, type 2
- citrullinemia
- congenital bilateral absence of vas deferens
- cystic fibrosis
- distal spinal muscular atrophy, type V
- Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome, arthrochalasia type
- Ehlers-Danlos syndrome, classical type
- hemochromatosis
- hemochromatosis, type 3
- hereditary nonpolyposis colorectal cancer
- maple syrup urine disease
- maturity onset diabetes of the young type 2
- mucopolysaccharidosis type VII or Sly syndrome
- nonsyndromic deafness
- nonsyndromic deafness, autosomal dominant
- nonsyndromic deafness, autosomal recessive
- osteogenesis imperfecta
- osteogenesis imperfecta, type I
- osteogenesis imperfecta, type II
- osteogenesis imperfecta, type III
- osteogenesis imperfecta, type IV
- p47-phox-deficient chronic granulomatous disease
- Pendred syndrome
- Romano-Ward syndrome
- Shwachman-Diamond syndrome
- Williams syndrome
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