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.

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.

Genes

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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 gene: hemochromatosis
• HLA-B: major histocompatibility complex, class I, B
• 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

Diseases

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

• ankylosing spondylitis
• collagenopathy, types II and XI
• 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
• Stickler syndrome
• Stickler syndrome, COL11A2
• Weissenbacher-Zweymüller syndrome
• X-linked sideroblastic anemia

References

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Chromosomes

Chromosome 6 humain | Humán 6-os kromoszóma | Cromossoma 6 (humano) | Хромозом 6 (човек)