World Library  
Flag as Inappropriate
Email this Article

Chromosome 12 (human)

Article Id: WHEBN0003407273
Reproduction Date:

Title: Chromosome 12 (human)  
Author: World Heritage Encyclopedia
Language: English
Subject: Chromosomes, Parastremmatic dwarfism, Human genome, Chromosomes (human), MODY 3
Collection: Chromosomes, Chromosomes (Human), Genes on Human Chromosome 12
Publisher: World Heritage Encyclopedia
Publication
Date:
 

Chromosome 12 (human)

Chromosome 12 (human)
Pair of human chromosome 12 (after G-banding).
One is from mother, one is from father.
Chromosome 12 pair in human male karyogram.
Features
Length (bp) 133,275,309 bp
Number of genes 1,950
Type Autosome
Centromere position Submetacentric [1]
Identifiers
RefSeq NC_000012
GenBank CM000674
Map of Chromosome 12
Ideogram of human chromosome 12. Mbp means mega base pair. See locus for other notation.

Chromosome 12 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 12 spans about 133 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 1f
  • APOLD1: apolipoprotein L domain containing 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 deficiency) 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:

References

  1. ^ "Table 2.3: Human chromosome groups". Human Molecular Genetics (2nd ed.). Garland Science. 1999. 
  2. ^ Riaz N; Steinberg S; Ahmad J; et al. (April 2005). "Genomewide significant linkage to stuttering on chromosome 12". Am. J. Hum. Genet. 76 (4): 647–51.  
  • Gilbert F, Kauff N (2000). "Disease genes and chromosomes: disease maps of the human genome.Chromosome 12". Genet Test 4 (3): 319–33.  
  • 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.  
This article was sourced from Creative Commons Attribution-ShareAlike License; additional terms may apply. World Heritage Encyclopedia content is assembled from numerous content providers, Open Access Publishing, and in compliance with The Fair Access to Science and Technology Research Act (FASTR), Wikimedia Foundation, Inc., Public Library of Science, The Encyclopedia of Life, Open Book Publishers (OBP), PubMed, U.S. National Library of Medicine, National Center for Biotechnology Information, U.S. National Library of Medicine, National Institutes of Health (NIH), U.S. Department of Health & Human Services, and USA.gov, which sources content from all federal, state, local, tribal, and territorial government publication portals (.gov, .mil, .edu). Funding for USA.gov and content contributors is made possible from the U.S. Congress, E-Government Act of 2002.
 
Crowd sourced content that is contributed to World Heritage Encyclopedia is peer reviewed and edited by our editorial staff to ensure quality scholarly research articles.
 
By using this site, you agree to the Terms of Use and Privacy Policy. World Heritage Encyclopedia™ is a registered trademark of the World Public Library Association, a non-profit organization.
 


Copyright © World Library Foundation. All rights reserved. eBooks from Project Gutenberg are sponsored by the World Library Foundation,
a 501c(4) Member's Support Non-Profit Organization, and is NOT affiliated with any governmental agency or department.