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Chromosome 6 (human)
Encyclopedia
Chromosome
A chromosome is an organized structure of DNA and protein found in cells. It is a single piece of coiled DNA containing many genes, regulatory elements and other nucleotide sequences. Chromosomes also contain DNA-bound proteins, which serve to package the DNA and control its functions.Chromosomes...
s in human
Human
Humans are the only living species in the Homo genus...
s. People normally have two copies of this chromosome. Chromosome 6 spans more than 170 million base pair
Base pair
In molecular biology and genetics, the linking between two nitrogenous bases on opposite complementary DNA or certain types of RNA strands that are connected via hydrogen bonds is called a base pair...
s (the building material of DNA
DNA
Deoxyribonucleic acid is a nucleic acid that contains the genetic instructions used in the development and functioning of all known living organisms . The DNA segments that carry this genetic information are called genes, but other DNA sequences have structural purposes, or are involved in...
) and represents between 5.5 and 6% of the total DNA in cells
Cell (biology)
The cell is the basic structural and functional unit of all known living organisms. It is the smallest unit of life that is classified as a living thing, and is often called the building block of life. The Alberts text discusses how the "cellular building blocks" move to shape developing embryos....
. It contains the Major Histocompatibility Complex
Major histocompatibility complex
Major histocompatibility complex is a cell surface molecule encoded by a large gene family in all vertebrates. MHC molecules mediate interactions of leukocytes, also called white blood cells , which are immune cells, with other leukocytes or body cells...
, which contains over 100 genes related to the immune response, and plays a vital role in organ transplantation.
Identifying gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
s 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
The following are some of the genes located on chromosome 6:- BCKDHBBCKDHB2-oxoisovalerate dehydrogenase subunit beta, mitochondrial is an enzyme that in humans is encoded by the BCKDHB gene.- Function :Branched-chain keto acid dehydrogenase is a multienzyme complex associated with the inner membrane of mitochondria, and functions in the catabolism of branched-chain...
: branched chain keto acid dehydrogenase E1, beta polypeptide (maple syrup urine disease) - CNR1: cannabinoid 1 receptor
- COL11A2COL11A2COL11A2 is a human gene that is one of several genes that provide instructions for the production of type XI collagen. The COL11A2 gene produces one component of this type of collagen, called the pro-alpha2 chain...
: collagen, type XI, alpha 2 - CYP21A2: cytochrome P450, family 21, subfamily A, polypeptide 2
- DSP: Desmoplakin gene linked to cardiomyopathy
- EYA4EYA4Eyes absent homolog 4 is a protein that in humans is encoded by the EYA4 gene.-Further reading:...
: eyes absent homolog 4 (Drosophila) - HFE: hemochromatosis
- HLA-AHLA-AHLA-A are a group of human leukocyte antigens that are encoded by the HLA-A locus on human chromosome 6p. The HLA genes constitute a large subset of the Major histocompatibility complex of humans. HLA-A is a component of certain MHC class I cell surface receptor isoforms that resides on the...
, HLA-BHLA-BHLA-B is a human gene that provides instructions for making a protein that plays a critical role in the immune system. HLA-B is part of a family of genes called the human leukocyte antigen complex...
, HLA-CHLA-CHLA-C belongs to the MHC class I heavy chain receptors. The C receptor is a heterodimer consisting of a HLA-C mature gene product and β2-microglobulin. The mature C chain is anchored in the membrane...
: major histocompatibility complex (MHC), class I, A, B, and C loci. - HLA-DQA1HLA-DQA1Major histocompatibility complex, class II, DQ alpha 1, also known as HLA-DQA1, is a human gene present on short arm of chromosome 6 and also denotes the genetic locus which contains this gene...
and HLA-DQB1HLA-DQB1Major histocompatibility complex, class II, DQ beta 1, also known as HLA-DQB1, is a human gene and also denotes the genetic locus that contains this gene...
form HLA-DQHLA-DQHLA-DQ is a cell surface receptor type protein found on antigen presenting cells. DQ is an αβ heterodimer of the MHC Class II type. The α and β chains are encoded by HLA-DQA1 and HLA-DQB1, respectively. These two loci are adjacent to each other on chromosome 6p21.3. Both the α-chain and β-chain...
heterodimer MHC class II, DQ: Celiac1, IDDM - HLA-DRAHLA-DRAHLA class II histocompatibility antigen, DR alpha chain is a protein that in humans is encoded by the HLA-DRA gene. HLA-DRA encodes the alpha subunit of HLA-DR. Unlike the alpha chains of other Human MHC class II molecules, the alpha subunit is practically invariable...
, HLA-DRB1HLA-DRB1HLA class II histocompatibility antigen, DRB1-9 beta chain is a protein that in humans is encoded by the HLA-DRB1 gene. DRB1 encodes the most prevalent beta subunit of HLA-DR.- Function :...
, HLA-DRB3, HLA-DRB4HLA-DRB4Major histocompatibility complex, class II, DR beta 4, also known as HLA-DRB4, is a human gene.- Function :The protein encoded by this gene belongs to the HLA class II beta chain paralogues. The class II molecule is a heterodimer consisting of an alpha and a beta chain , both anchored in the...
, HLA-DRB5HLA-DRB5HLA class II histocompatibility antigen, DRB5 beta chain is a protein that in humans is encoded by the HLA-DRB5 gene.- Function :The protein encoded by this gene belongs to the HLA class II beta chain paralogues. The class II molecule is a heterodimer consisting of an alpha and a beta chain , both...
forms HLA-DR, heterodimer MHC class II, DR - HLA-DPA1 and HLA-DPB1HLA-DPB1HLA class II histocompatibility antigen, DP beta chain is a protein that in humans is encoded by the HLA-DPB1 gene.-Further reading:...
forms HLA-DR, MHC class II, DP - MUT: methylmalonyl Coenzyme A mutase
- MYO6MYO6Myosin VI, also known as MYO6, is a protein. It has been found in humans, mice, fruit flies , and nematodes .-Interactions:MYO6 has been shown to interact with GIPC1 and DAB2....
: myosin VI - PARK2: Parkinson disease (autosomal recessive, juvenile) 2, parkin
- PKHD1: polycystic kidney and hepatic disease 1 (autosomal recessive)
- TNXB: tenascin XB
- VEGFVascular endothelial growth factorVascular endothelial growth factor is a signal protein produced by cells that stimulates vasculogenesis and angiogenesis. It is part of the system that restores the oxygen supply to tissues when blood circulation is inadequate....
: vascular endothelial growth factor A (angiogenic growth factor) - IGF2R: insulin-like growth factor 2 receptor
- HLA-Cw*0602: gene variation related to psoriasis
- PLG: plasminogen (6q26)
BGHS
Diseases & disorders
The following diseases are some of those related to genes on chromosome 6:- ankylosing spondylitisAnkylosing spondylitisAnkylosing spondylitis , previously known as Bekhterev's disease, Bekhterev syndrome, and Marie-Strümpell disease is a chronic inflammatory disease of the axial skeleton with variable involvement of peripheral joints and nonarticular structures...
, HLA-B - collagenopathy, types II and XICollagenopathy, types II and XIThe type II and XI collagenopathies are a group of disorders that affect connective tissue, the tissue that supports the body's joints and organs. These disorders are caused by defects in type II or type XI collagen. Collagens are complex molecules that provide structure, strength, and elasticity ...
- Coeliac diseaseCoeliac diseaseCoeliac disease , is an autoimmune disorder of the small intestine that occurs in genetically predisposed people of all ages from middle infancy onward...
, HLA-DQA1 & DQB1 - Ehlers-Danlos syndromeEhlers-Danlos syndromeEhlers–Danlos syndrome is a group of inherited connective tissue disorders, caused by a defect in the synthesis of collagen . The collagen in connective tissue helps tissues to resist deformation...
, classical, hypermobility, and Tenascin-X types - Hashimoto's thyroiditisHashimoto's thyroiditisHashimoto's thyroiditis or chronic lymphocytic thyroiditis is an autoimmune disease in which the thyroid gland is gradually destroyed by a variety of cell- and antibody-mediated immune processes. It was the first disease to be recognized as an autoimmune disease...
- hemochromatosis
- Hemochromatosis type 1
- 21-hydroxylase deficiency
- maple syrup urine diseaseMaple syrup urine diseaseMaple syrup urine disease , also called branched-chain ketoaciduria, is an autosomal recessive metabolic disorder affecting branched-chain amino acids. It is one type of organic acidemia...
- methylmalonic acidemiaMethylmalonic acidemiaMethylmalonic acidemia , also called methylmalonic aciduria, is an autosomal recessive metabolic disorder. It is a classical type of organic acidemia....
- Autosomal nonsyndromic deafnessNonsyndromic deafnessNonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. In contrast, syndromic deafness involves hearing loss that occurs with abnormalities in other parts of the body....
- otospondylomegaepiphyseal dysplasiaOtospondylomegaepiphyseal dysplasiaOtospondylomegaepiphyseal dysplasia is an autosomal recessive disorder of bone growth that results in skeletal abnormalities, severe hearing loss, and distinctive facial features...
- Parkinson disease
- polycystic kidney diseasePolycystic kidney diseaseAutosomal dominant polycystic kidney disease is an inherited systemic disorder that predominantly affects the kidneys, but may affect other organs including the liver, pancreas, brain, and arterial blood vessels...
- porphyriaPorphyriaPorphyrias are a group of inherited or acquired disorders of certain enzymes in the heme bio-synthetic pathway . They are broadly classified as acute porphyrias and cutaneous porphyrias, based on the site of the overproduction and accumulation of the porphyrins...
- porphyria cutanea tardaPorphyria cutanea tardaPorphyria cutanea tarda is the most common subtype of porphyria. The disorder results from low levels of the enzyme responsible for the fifth step in heme production. Heme is a vital molecule for all of the body's organs...
- Rheumatoid arthritisRheumatoid arthritisRheumatoid arthritis is a chronic, systemic inflammatory disorder that may affect many tissues and organs, but principally attacks synovial joints. The process produces an inflammatory response of the synovium secondary to hyperplasia of synovial cells, excess synovial fluid, and the development...
, HLA-DR - Stickler syndrome, COL11A2
- Systemic lupus erythematosusSystemic lupus erythematosusSystemic lupus erythematosus , often abbreviated to SLE or lupus, is a systemic autoimmune disease that can affect any part of the body. As occurs in other autoimmune diseases, the immune system attacks the body's cells and tissue, resulting in inflammation and tissue damage...
- Diabetes mellitus type 1Diabetes mellitus type 1Diabetes mellitus type 1 is a form of diabetes mellitus that results from autoimmune destruction of insulin-producing beta cells of the pancreas. The subsequent lack of insulin leads to increased blood and urine glucose...
, HLA-DR, DQA1 & DQB1 - X-linked sideroblastic anemia
- EpilepsyEpilepsyEpilepsy is a common chronic neurological disorder characterized by seizures. These seizures are transient signs and/or symptoms of abnormal, excessive or hypersynchronous neuronal activity in the brain.About 50 million people worldwide have epilepsy, and nearly two out of every three new cases...