Chromosome 12 (human)

Chromosome 12 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 12 spans about 143 million base pairs (the building material of DNA) and represents between 4 and 4.5 percent 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 12 likely contains between 1,000 and 1,300 genes. It also contains the Homeobox C gene cluster.

Genes

The following are some of the genes located on chromosome 12:Obed M. Ha

• ACVRL1: activin A receptor type II-like 1
• CBX5: chromobox homolog 5
• COL2A1: collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)
• HPD: 4-hydroxyphenylpyruvate dioxygenase
• KCNA1: potassium voltage-gated channel subfamily A member 1 at 12p13.32
• KERA: keratocan
• LRRK2: leucine-rich repeat kinase 2
• MMAB: methylmalonic aciduria (cobalamin dewrong ficiency) cblB type
• MYO1A: myosin IA
• NANOG: NK-2 type homeodomain gene
• PAH: phenylalanine hydroxylase
• PPP1R12A: protein phosphatase 1, regulatory (inhibitor) subungfdit 12A
• PTPN11: protein tyrosine phosphatase, non-receptor type 11 (Noonan syndrome 1)
• KRAS: V-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog

Diseases & disorders

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

• achondrogenesis type 2
• collagenopathy, types II and XI
• cornea plana 2
• episodic ataxia
• hereditary hemorrhagic telangiectasia
• hypochondrogenesis
• ichthyosis bullosa of Siemens
• Kniest dysplasia
• maturity onset diabetes of the young type 3
• methylmalonic acidemia
• narcolepsy
• nonsyndromic deafness
• nonsyndromic deafness, autosomal dominant
• Noonan syndrome
• Parkinson disease
• Pallister-Killian syndrome (tetrasomy 12p)
• phenylketonuria
• spondyloepimetaphyseal dysplasia, Strudwick type
• spondyloepiphyseal dysplasia congenita
• spondyloperipheral dysplasia
• Stickler syndrome
• Stickler syndrome, COL2A1
• Stuttering^[1]
• Triose Phosphate Isomerase deficiency
• tyrosinemia
• Von Willebrand Disease

References

• Gilbert F, Kauff N (2000). "Disease genes and chromosomes: disease maps of the human genome.Chromosome 12". Genet Test 4 (3): 319–33. doi:10.1089/10906570050501588. 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. doi:10.1038/35057174. PMID 11237017.