Cromossoma 5 (humano)

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Chromosome 5.svg

O cromossoma 5 é um dos 23 pares de cromossomas do cariótipo humano.

Genes[editar | editar código-fonte]

  • ADAMTS2: ADAM metallopeptidase with thrombospondin type 1 motif, 2
  • APC: adenomatosis polyposis coli
  • CAST: Calpastatin
  • EGR1: early growth response protein 1
  • ERAP1: endoplasmic reticulum aminopeptidase 1 (previously called ARTS-1)
  • ERAP2: endoplasmic reticulum aminopeptidase 2
  • DTDST: diastrophic dysplasia sulfate transporter
  • ERCC8: excision repair cross-complementing rodent repair deficiency, complementation group 8
  • FGFR4: fibroblast growth factor receptor 4
  • GM2A: GM2 ganglioside activator
  • HEXB: hexosaminidase B (beta polypeptide)
  • MASS1: monogenic, audiogenic seizure susceptibility 1 homolog (mouse)
  • MCCC2: methylcrotonoyl-Coenzyme A carboxylase 2 (beta)
  • MTRR: 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
  • NIPBL: Nipped-B homolog (Drosophila)
  • NSD1: Transcription coregulator protein
  • Pikachurin: Responsible for the functioning of the ribbon synapses; allows the eye to track moving objects
  • SLC22A5: solute carrier family 22 (organic cation transporter), member 5
  • SLC26A2: solute carrier family 26 (sulfate transporter), member 2
  • SMN1: survival motor neuron 1, telomeric
  • SMN2: survival motor neuron 2, centromeric
  • SNCAIP: synuclein, alpha interacting protein (synphilin)
  • SPINK5: serine protease inhibitor Kazal-type 5 (LEKTI)
  • SPINK6: serine protease inhibitor Kazal-type 6
  • SPINK9: serine protease inhibitor Kazal-type 9 (LEKTI-2)
  • TCOF1: Treacher Collins-Franceschetti syndrome 1
  • TGFBI: keratoepithelin
  • TTC37: Tetratricopeptide repeat domain 37
  • FGF1:

Doenças[editar | editar código-fonte]

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Doenças:

  • Amiotrofia Espinhal Progressiva