Chromosome 6 (human)
|Chromosome 6 (human)|
Human chromosome 6 pair after G-banding.
One is from mother, one is from father.
Chromosome 6 pair in human male karyogram.
|Length (bp)||170,805,979 bp|
|Number of genes||2,828|
|Centromere position||Submetacentric |
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. 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.
The human leukocyte antigen lies on chromosome 6 (exception: the gene for β2-microglobulin which is located on chromosome 15), and encodes cell-surface antigen-presenting proteins among other functions. The following are some of the genes and their corresponding Cytogenetic location on chromosome 6:
- 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)
- 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)
- T: T brachyury transcription factor (more commonly known as the T gene) linked to Hepatocellular carcinoma and Chordoma (6q27)
- 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)
|This section requires 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, classical, hypermobility, and Tenascin-X types
- Hashimoto's thyroiditis
- Hemochromatosis type 1
- 21-hydroxylase deficiency
- maple syrup urine disease
- methylmalonic acidemia
- Autosomal nonsyndromic deafness
- otospondylomegaepiphyseal dysplasia
- Parkinson disease
- polycystic kidney disease
- porphyria cutanea tarda
- Rheumatoid arthritis, HLA-DR
- Stickler syndrome, COL11A2
- Systemic lupus erythematosus
- Diabetes mellitus type 1, HLA-DR, DQA1 & DQB1
- X-linked sideroblastic anemia
- Guillain Barre Syndrome
- Hepatocellular carcinoma
- "Table 2.3: Human chromosome groups". Human Molecular Genetics (2nd ed.). Garland Science. 1999.
- "Homo sapiens (human) Chromosome 6". NCBI Map Viewer. National Center for Biotechnology Information.
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- "T brachyury transcription factor". T - T brachyury transcription factor - Genetics Home Reference.
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