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 pair A base pair (bp) is a fundamental unit of double-stranded nucleic acids consisting of two nucleobases bound to each other by hydrogen bonds. They form the building blocks of the DNA double helix and contribute to the folded structure of both DNA ...

s (the building material of DNA) and represents between 5.5 and 6% of the total DNA in

cells Cell most often refers to: * Cell (biology), the functional basic unit of life Cell may also refer to: Locations * Monastic cell, a small room, hut, or cave in which a religious recluse lives, alternatively the small precursor of a monastery w ...

. It contains the

major histocompatibility complex The major histocompatibility complex (MHC) is a large locus on vertebrate DNA containing a set of closely linked polymorphic genes that code for cell surface proteins essential for the adaptive immune system. These cell surface proteins are calle ...

, which contains over 100 genes related to the immune response, and plays a vital role in organ transplantation.

Genes

The human leukocyte antigen lies on chromosome 6, with the exception of the gene for

β2-microglobulin β2 microglobulin (B2M) is a component of MHC class I molecules. MHC class I molecules have α1, α2, and α3 proteins which are present on all nucleated cells (excluding red blood cells). In humans, the β2 microglobulin protein is encoded by t ...

(which is located on

chromosome 15 Chromosome 15 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 15 spans about 102 million base pairs (the building material of DNA) and represents between 3% and 3.5% of the total DNA ...

), and encodes cell-surface antigen-presenting proteins among other functions.

Number of genes

In 2003, the entirety of chromosome 6 was manually annotated for proteins, resulting in the identification of 1,557 genes, and 633 pseudogenes. The following are some of the newer gene count estimates. Because researchers use different approaches to

genome annotation DNA annotation or genome annotation is the process of identifying the locations of genes and all of the coding regions in a genome and determining what those genes do. An annotation (irrespective of the context) is a note added by way of explanati ...

their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project ( CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes.

Gene list

The following is a partial list of genes on human chromosome 6. For complete list, see the link in the infobox on the right.

p-arm

The following are some of the genes located on p-arm (short arm) of human chromosome 6:

q-arm

The following are some of the genes located on q-arm (long arm) of human chromosome 6:

Diseases and disorders

The following diseases are some of those related to genes on chromosome 6: * ankylosing spondylitis, HLA-B *

collagenopathy, types II and XI The 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 molecul ...

* Coeliac disease HLA-DQA1 & DQB1 * Ehlers-Danlos syndrome, classical, hypermobility, and Tenascin-X types * Hashimoto's thyroiditis * hemochromatosis * Hemochromatosis type 1 *

21-hydroxylase deficiency Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, in all its forms, accounts for over 95% of diagnosed cases of congenital adrenal hyperplasia (CAH), and CAH in most contexts refers to 21-hydroxylase deficiency and different mutat ...

maple syrup urine disease Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder affecting branched-chain amino acids. It is one type of organic acidemia. The condition gets its name from the distinctive sweet odor of affected infants' urine and ear ...

* methylmalonic acidemia * Autosomal nonsyndromic deafness *

North Carolina macular dystrophy North Carolina macular dystrophy is an extremely rare autosomal dominant In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on t ...

otospondylomegaepiphyseal dysplasia Otospondylomegaepiphyseal dysplasia (OSMED) is an autosomal recessive disorder of bone growth that results in skeletal abnormalities, severe hearing loss, and distinctive facial features. The name of the condition indicates that it affects hearing ...

Parkinson disease Parkinson may refer to: *Parkinson (surname) * ''Parkinson'' (TV series), British chat show, presented by Sir Michael Parkinson *Parkinson, Queensland, suburb of Brisbane, Australia *The Parkinsons (fl. early 20th century), American father-and-son ...

* polycystic kidney disease * porphyria * porphyria cutanea tarda * Rheumatoid arthritis, HLA-DR * CIRS (Chronic Inflammatory Response Syndrome ), Sick Building Syndrome, Mold Toxin Susceptibility / Poisoning, HLA-DR/DQ *

Spinocerebellar ataxia type 1 Spinocerebellar ataxia type 1 (SCA1) is a rare autosomal dominant disorder, which, like other spinocerebellar ataxias, is characterized by neurological symptoms including dysarthria, hypermetric saccades, and ataxia of gait and stance. This cere ...

, ATXN1 *

Stickler syndrome Stickler syndrome (hereditary progressive arthro-ophthalmodystrophy) is a group of rare genetic disorders affecting connective tissue, specifically collagen. Stickler syndrome is a subtype of collagenopathy, types II and XI. Stickler syndrome i ...

, COL11A2 *

Systemic lupus erythematosus Lupus, technically known as systemic lupus erythematosus (SLE), is an autoimmune disease in which the body's immune system mistakenly attacks healthy tissue in many parts of the body. Symptoms vary among people and may be mild to severe. Comm ...

* Diabetes mellitus type 1, HLA-DR, DQA1 & DQB1 *

X-linked sideroblastic anemia Sideroblastic anemia, or sideroachrestic anemia, is a form of anemia in which the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes). In sideroblastic anemia, the body has iron available but cannot incorpora ...

* Epilepsy *

Guillain Barre Syndrome Guillain may refer to: People * Georges Guillain (1876–1961), French neurologist * Gilles Guillain (born 1982), Colombian-born French actor * Robert Guillain (1908–1998), French journalist and author of several books on Japan Medical * ...

* Chordoma *

Hepatocellular carcinoma Hepatocellular carcinoma (HCC) is the most common type of primary liver cancer in adults and is currently the most common cause of death in people with cirrhosis. HCC is the third leading cause of cancer-related deaths worldwide. It occurs in t ...

* Schizophrenia

Cytogenetic band

References

;Notes *''Some text in this article was taken from http://ghr.nlm.nih.gov/chromosome=6 (public domain)''

External links

* * *
Chromosome 6 Research Project"
''Parent-driven research for genotype-phenotype studies on chromosome 6 disorders.'' Retrieved 2017-06-17 {{DEFAULTSORT:Chromosome 06 (Human) Chromosomes (human) *