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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 1,100 and 1,600 genes.citation needed
Genes
The following are some of the genes located on chromosome 6:
- BCKDHB: branched chain keto acid dehydrogenase E1, beta polypeptide (maple syrup urine disease)
- COL11A2: collagen, type XI, alpha 2
- CYP21A2: cytochrome P450, family 21, subfamily A, polypeptide 2
- DSP: Desmoplakin gene linked to cardiomyopathy
- EYA4: eyes absent homolog 4 (Drosophila)
- HFE: hemochromatosis
- HLA-A,HLA-B,HLA-C: major histocompatibility complex (MHC), class I, A, B, and C loci.
- HLA-DQA1 and HLA-DQB1 form HLA-DQ heterodimer MHC class II, DQ: Celiac1, IDDM
- HLA-DRA, HLA-DRB1, HLA-DRB3, HLA-DRB4, HLA-DRB5 forms HLA-DR, heterodimer MHC class II, DR
- HLA-DPA1 and HLA-DPB1 forms HLA-DR, MHC class II, DP
- MUT: methylmalonyl Coenzyme A mutase
- MYO6: myosin VI
- PARK2: Parkinson disease (autosomal recessive, juvenile) 2, parkin
- PKHD1: polycystic kidney and hepatic disease 1 (autosomal recessive)
- TNXB: tenascin XB
- VEGF: vascular endothelial growth factor A (angiogenic growth factor)
- IGF2R: insulin-like growth factor 2 receptor
| Please help improve this section by expanding it. Further information might be found on the talk page or at requests for expansion. (June 2008) |
Diseases & disorders
The following diseases are some of those related to genes on chromosome 6:
- ankylosing spondylitis, HLA-B
- collagenopathy, types II and XI
- Coeliac disease, HLA-DQA1 & DQB1
- Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome, classical type
- Ehlers-Danlos syndrome, hypermobility type
- hemochromatosis
- hemochromatosis, type 1
- 21-hydroxylase deficiency
- maple syrup urine disease
- methylmalonic acidemia
- nonsyndromic deafness
- nonsyndromic deafness, autosomal dominant
- nonsyndromic deafness, autosomal recessive
- otospondylomegaepiphyseal dysplasia
- Parkinson disease
- polycystic kidney disease
- porphyria
- porphyria cutanea tarda
- Rheumatoid arthritis, HLA-DR
- Stickler syndrome, COL11A2
- Diabetes mellitus type 1, HLA-DR, DQA1 & DQB1
- X-linked sideroblastic anemia
- Epilepsy
References
- Some text in this article was taken from http://ghr.nlm.nih.gov/chromosome=6 (public domain)
- Gilbert F (2002). "Chromosome 6". Genet Test 6 (4): 341–58. doi:. PMID 12537662.
- Mungall AJ et alii (2003). "The DNA sequence and analysis of human chromosome 6". Nature 425 (6960): 805–11. doi:. PMID 14574404.
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Wikipedia content modification information:
- This page was last modified on 17 August 2008, at 19:11.
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