Chromosome 6 (human)

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Chromosome 6.svg

Chromosome 6 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 6 spans more than 170 million base pairs (the building material of DNA) and represents between 5.5 and 6% of the total DNA in cells. It contains the Major Histocompatibility Complex, which contains over 100 genes related to the immune response, and plays a vital role in organ transplantation.

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 6 likely contains between 2,000 and 2,057 genes.[1] As of 2003, the entirety of chromosome 6 has been sequenced by manual annotation of proteins, resulting in the identification of 1,557 genes and 633 pseudogenes.[2]

Genes[edit]

The following are some of the genes located on chromosome 6:

q-arm[edit]

  • BCKDHB: branched-chain keto acid dehydrogenase E1, beta polypeptide (maple syrup urine disease)(6q14.1)
  • MYO6: myosin VI (6q14.1)
  • CNR1: cannabinoid 1 receptor (6q14-q15)[3]
  • HACE1: HECT domain and Ankyrin repeat containing, E3 ubiquitin protein ligase 1 (6q21)
  • TAAR1: trace amine associated receptor 1 (6q23.1)
  • TAAR2: trace amine associated receptor 2 (6q24)
  • EYA4: eyes absent homolog 4 (Drosophila)(6q23.2)
  • IFNGR: interferon-γ receptor gene (6q23-q24)
  • OPRM1: μ-opioid receptors (6q24-q25)
  • IGF2R: insulin-like growth factor 2 receptor (6q25.3)
  • PLG: plasminogen (6q26)
  • PARK2: Parkinson disease (autosomal recessive, juvenile) 2, parkin (6q26)

p-arm[edit]

  • MUT: methylmalonyl Coenzyme A mutase (6p12.3)
  • VEGF: vascular endothelial growth factor A (angiogenic growth factor) (6p21.1)
  • PKHD1: polycystic kidney and hepatic disease 1 (autosomal recessive) (6p21.2-p12)
  • COL11A2: collagen, type XI, alpha 2(6p21.3)
  • CYP21A2: cytochrome P450, family 21, subfamily A, polypeptide 2 (6p21.33)
  • HFE: hemochromatosis (6p21.3)
  • HLA-A, HLA-B, HLA-C: major histocompatibility complex (MHC), class I, A, B, and C loci. (6p21.3)
  • HLA-DQA1 and HLA-DQB1 form HLA-DQ heterodimer MHC class II, DQ: Celiac1, IDDM (6p21.3)
  • HLA-DRA, HLA-DRB1, HLA-DRB3, HLA-DRB4, HLA-DRB5 forms HLA-DR, heterodimer MHC class II, DR (6p21.3)
  • HLA-DPA1 and HLA-DPB1 forms HLA-DR, MHC class II, DP (6p21.3)
  • HLA-Cw*06:02: gene variation related to psoriasis (6p21.3)
  • TNXB: tenascin XB (6p21.3)
  • DSP: Desmoplakin gene linked to cardiomyopathy (6p24.3)

Diseases & disorders[edit]

The following diseases are some of those related to genes on chromosome 6:

References[edit]

  1. ^ http://www.ncbi.nlm.nih.gov/projects/mapview/maps.cgi?TAXID=9606&CHR=6&MAPS=ideogr,genes[17536196.70%3A34647703.30]&QSTR=HFE&QUERY=uid%28-2100351222,-2100349927,-2100345356,-2100345070,-2100338650,-2100244354,-2100240158,-2100219598,-2100214747,-2100214240,-2100204836,-2100181489,-2100141136,-2100135106,-2100113614,-2100021268,-2100017302,-2099931215,-2099823018,-2099778923%29&ZOOM=100
  2. ^ https://www.ncbi.nlm.nih.gov/pubmed/14574404
  3. ^ Matsuda, L A, S J Lolait, M J Brownstein, A C Young, and T I Bonner. "Structure of a cannabinoid receptor and functional expression of the cloned cDNA." Nature, 1990: 346:561-564.