This MedLibrary.org supplementary page on Chromosome 12 (human) is provided directly from the open source Wikipedia as a service to our readers. Please see the note below on authorship of this content, as well as the Wikipedia usage guidelines. To search for other content from our encyclopedia supplement, please use the form below:
Related Sponsors
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:
- 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
- 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)
Diseases & disorders
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
- ichthyosis bullosa of Siemens
- Kniest dysplasia
- maturity onset diabetes of the young type 3
- methylmalonic acidemia
- 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
- Triose Phosphate Isomerase deficiency
- tyrosinemia
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:. 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:. PMID 11237017.
 |
This genetics article is a stub. You can help Wikipedia by expanding it. |
|
|||||
Wikipedia content modification information:
- This page was last modified on 4 December 2008, at 02:18.
Wikipedia Authorship and Review
Wikipedia content provided here is not reviewed directly by MedLibrary.org. Wikipedia content is authored by an open community of volunteers and is not produced by or in any way affiliated with MedLibrary.org.
Wikipedia Usage Guidelines
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article on "Chromosome 12 (human)".
The URL for this specific entry is:
All Wikipedia text is available under the terms of the GNU Free Documentation License. (See Copyrights for details). Wikipedia® is a registered trademark of the Wikimedia Foundation, Inc.