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Chromosome 3 (human): Wikis


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Chromosome 3.svg
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Chromosome 3 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 3 spans almost 200 million base pairs (the building material of DNA) and represents about 6.5 percent of the total DNA in cells.

Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 3 likely contains between 1,100 and 1,500 genes.



The following are some of the genes located on chromosome 3:



  • ALAS1: aminolevulinate, delta-, synthase 1
  • BTD: biotinidase
  • CCR5: chemokine (C-C motif) receptor 5
  • CNTN4: Contactin 4
  • COL7A1: Collagen, type VII, alpha 1 (epidermolysis bullosa, dystrophic, dominant and recessive)
  • MITF: microphthalmia-associated transcription factor
  • MLH1: mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
  • 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


  • CPOX: coproporphyrinogen oxidase (coproporphyria, harderoporphyria)
  • HGD: homogentisate 1,2-dioxygenase (homogentisate oxidase)
  • 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
  • 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:


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