Chromosome 12 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 12 spans about 132 million base pairs (the building material of DNA) and represents between 4 and 4.5 percent of the total DNA in cells. Figure 1: A representation of a condensed eukaryotic chromosome, as seen during cell division. ... Trinomial name Homo sapiens sapiens Linnaeus, 1758 Humans, or human beings, are bipedal primates belonging to the mammalian species Homo sapiens (Latin: wise man or knowing man) under the family Hominidae (the great apes). ... Base pairs, of a DNA molecule. ... The structure of part of a DNA double helix Deoxyribonucleic acid (DNA) is a nucleic acid that contains the genetic instructions for the development and function of living organisms. ... Drawing of the structure of cork as it appeared under the microscope to Robert Hooke from Micrographia which is the origin of the word cell. Cells in culture, stained for keratin (red) and DNA (green). ...

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 12 likely contains between 1,000 and 1,300 genes. It also contains the Homeobox C gene cluster. For other meanings of this term, see gene (disambiguation). ... A homeobox is a DNA sequence found within genes that are involved in the regulation of development (morphogenesis) of animals, fungi and plants. ...

Genes

The following are some of the genes located on chromosome 12:

• ACVRL1: activin A receptor type II-like 1
• COL2A1: collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)
• HPD: 4-hydroxyphenylpyruvate dioxygenase
• LRRK2: leucine-rich repeat kinase 2
• MMAB: methylmalonic aciduria (cobalamin deficiency) cblB type
• MYO1A: myosin IA
• NANOG: NK-2 type homeodomain gene
• PAH: phenylalanine hydroxylase
• PPP1R12A: protein phosphatase 1, regulatory (inhibitor) subunit 12A
• PTPN11: protein tyrosine phosphatase, non-receptor type 11 (Noonan syndrome 1)

COL2A1 (collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)) is a human gene that provides instructions for the production of the pro-alpha1(II) chain of type II collagen. ... Nanog (pron. ... PTPN11 is a gene encoding the protein tyrosine phosphatase (PTP), Shp2. ...

Diseases

The following diseases are some of those related to genes on chromosome 12:

• achondrogenesis type 2
• collagenopathy, types II and XI
• hereditary hemorrhagic telangiectasia
• hypochondrogenesis
• Kniest dysplasia
• maturity onset diabetes of the young type 3
• methylmalonic acidemia
• nonsyndromic deafness
• nonsyndromic deafness, autosomal dominant
• Noonan syndrome
• Parkinson disease
• phenylketonuria
• spondyloepimetaphyseal dysplasia, Strudwick type
• spondyloepiphyseal dysplasia congenita
• spondyloperipheral dysplasia
• Stickler syndrome
• Stickler syndrome, COL2A1
• Triose Phosphate Isomerase deficiency
• tyrosinemia

The type II and XI collagenopathies are a group of disorders that affect connective tissue, the tissue that supports the bodys joints and organs. ... In medicine, hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, is a genetic disorder that leads to vascular malformations. ... Hypochondrogenesis is a severe, inherited disorder of bone growth. ... Kniest dysplasia is an uncommon inherited disorder of bone growth. ... Maturity onset diabetes of the young (MODY) refers to any of several rare hereditary forms of diabetes mellitus due to dominantly inherited defects of insulin secretion. ... Methylmalonic acidemia (MMA) is an inborn error of intermediary metabolism that may present in the early neonatal period with progressive encephalopathy and death due to a secondary hyperammonemia. ... Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. ... Noonan Syndrome (NS) is a relatively common congenital genetic condition which affects both males and females. ... Phenylketonuria (PKU; ) is a human genetic disorder in which the body does not contain the enzyme phenylalanine hydroxylase, necessary to metabolize phenylalanine to tyrosine, and converts phenylalanine instead to phenylpyruvic acid. ... Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision. ... Spondyloepiphyseal dysplasia congenita is an rare inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision and hearing. ... Spondyloperipheral dysplasia is a disorder of bone growth. ... Stickler syndrome (or David-Stickler syndrome or Stickler-Wagner syndrome) is a group of inherited connective tissue disorders affecting collagen. ... Tyrosinemia (or Tyrosinaemia) is an error of metabolism, usually inborn, in which the body can not effectively break down the amino acid tyrosine, found in most animal and plant proteins. ...

References

• Gilbert F, Kauff N (2000). "Disease genes and chromosomes: disease maps of the human genome.Chromosome 12". Genet Test 4 (3): 319-33. PMID 11142767. 
• Montgomery KT, Lee E, Miller A, Lau S, Shim C, Decker J, Chiu D, Emerling S, Sekhon M, Kim R, Lenz J, Han J, Ioshikhes I, Renault B, Marondel I, Yoon SJ, Song K, Murty VV, Scherer S, Yonescu R, Kirsch IR, Ried T, McPherson J, Gibbs R, Kucherlapati R (2001). "A high-resolution map of human chromosome 12". Nature 409 (6822): 945-6. PMID 11237017.