Cromosoma 12 (humano)

Cromosoma 12 es uno de los 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Cromosoma 12 spans about 132 million base pairs (the building material of DNA) and represents between 4 y 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. Cromosoma 12 likely contains between 1,000 y 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 COL2A1: collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congénito) 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) 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 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. 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. Naturaleza 409 (6822): 945-6. PMID 11237017. Human chromosomes {1} {2} {3} {4} {5} {6} {7} {8} {9} {10} {11} {12} {13} {14} {15} {16} {17} {18} {19} {20} {21} {22} {X} {Y} Fr:Cromosoma 12 humain hu:Humán 12-es kromoszóma pt:Cromossoma 12 (humano) sr:Хромозом 12 (човек) Tr:kromozom 12 Esta página utiliza contenido con licencia Creative Commons de Wikipedia (ver autores).

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