Kromozom 7

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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.

İnsan karyotipinde kromozomlar
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İnsan karyotipinde kromozomlar

[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


Kromozomlar - İnsan kromozomlarıdeğiştir
Otozomlar
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