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Chromosome 1 (human)

Chromosome 1 is the designation for the largest human chromosome. People normally have two copies of chromosome 1, as they do with all of the autosomes, which are the non-sex chromosomes. Chromosome 1 spans about 247 million nucleotide base pairs, which are the basic units of information for DNA.[1] It represents about 8% of the total DNA in human cells.

Identifying genes on each chromosome is an active area of genetic research. Chromosome 1 is currently believed to have 3,148 genes, exceeding previous predictions based on its size.[1] It was the last completed chromosome, sequenced two decades after the beginning of the Human Genome Project.

The number of variations of nucleotides (SNP or single nucleotide polymorphism) is about 740,000.[citation needed]


The following are some of the genes located on chromosome 1:

  • ACADM: acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain
  • ASPM: a brain size determinant
  • COL11A1: collagen, type XI, alpha 1
  • CPT2: carnitine palmitoyltransferase II
  • DBT: dihydrolipoamide branched chain transacylase E2
  • DIRAS3: DIRAS family, GTP-binding RAS-like 3
  • ESPN: espin (autosomal recessive deafness 36)
  • F5: coagulation factor V (proaccelerin, labile factor)
  • FMO3: flavin containing monooxygenase 3
  • GALE: UDP-galactose-4-epimerase
  • GBA: glucosidase, beta; acid (includes glucosylceramidase) (gene for Gaucher disease)
  • GJB3: gap junction protein, beta 3, 31kDa (connexin 31)
  • GLC1A: gene for glaucoma
  • HFE2: hemochromatosis type 2 (juvenile)
  • HMGCL: 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase (hydroxymethylglutaricaciduria)
  • HPC1: gene for prostate cancer
  • IRF6: gene for connective tissue formation
  • KCNQ4: potassium voltage-gated channel, KQT-like subfamily, member 4
  • KIF1B: kinesin family member 1B
  • LMNA: lamin A/C
  • MFN2: mitofusin 2
  • MPZ: myelin protein zero (Charcot-Marie-Tooth neuropathy 1B)
  • MTHFR: 5,10-methylenetetrahydrofolate reductase (NADPH)
  • MTR: 5-methyltetrahydrofolate-homocysteine methyltransferase
  • MUTYH: mutY homolog (E. coli)
  • PARK7: Parkinson disease (autosomal recessive, early onset) 7
  • PINK1: PTEN induced putative kinase 1
  • PLOD1: procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1
  • PPOX: protoporphyrinogen oxidase
  • PSEN2: presenilin 2 (Alzheimer disease 4)
  • SDHB: succinate dehydrogenase complex subunit B
  • TSHB: thyroid stimulating hormone, beta
  • UROD: uroporphyrinogen decarboxylase (the gene for porphyria cutanea tarda)
  • USH2A: Usher syndrome 2A (autosomal recessive, mild)

According to the Chromosome 1 contain 263 million base pairs

Diseases & disorders

The following diseases are some of those related to genes on chromosome 1 (which contains the most known genetic diseases (890 total) of any human chromosome):


  1. ^ a b Chromosome size and number of genes derived from this database, retrieved July 7 2007.
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Chromosome_1_(human)". A list of authors is available in Wikipedia.
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