Chromosome 19

Chromosome 19 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 19 spans more than 63 million base pairs (the building material of DNA) and represents between 2 and 2.5 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 19 likely contains between 1,300 and 1,700 genes.

Genes

The following are some of the genes located on chromosome 19:

• APOE: Apolipoprotein E, gene associated with Alzheimer's disease
• BCKDHA: Branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)
• DMPK: Dystrophia myotonica-protein kinase
• GCDH: Glutaryl-Coenzyme A dehydrogenase
• HAMP: Hepcidin antimicrobial peptide
• MCPH2: microcephaly, primary autosomal recessive 2
• NOTCH3: Notch homolog 3 (Drosophila)
• NRTN: Neurturin, associated with Hirschsprung's disease
• PRX: Periaxin
• SLC5A5: Solute carrier family 5 (sodium iodide symporter), member 5
• STK11: Serine/threonine kinase 11 (Peutz-Jeghers syndrome)
• EYCL1: EYE COLOR 1; EYE COLOR, GREEN/BLUE; GEY. Gene map locus 19p13.1-q13.11 OMIM: 227240
• HCL1: HAIR COLOR 1; BROWN HAIR COLOR; BRHC. Gene map locus 19p13.1-q13.11 OMIM: 113750
• X-linked Agammaglobulin or Bruton's Disease
• PEX11G: peroxisomal biogenesis factor 11 gamma

Diseases & disorders

The following diseases are some of those related to genes on chromosome 19:

• Alzheimer's disease
• CADASIL
• Centronuclear myopathy autosomal dominant form
• Charcot-Marie-Tooth disease
• Congenital hypothyroidism
• Glutaric acidemia type 1
• Hemochromatosis
• Leber's Congenital Amaurosis
• Maple syrup urine disease
• Myotonic dystrophy
• Myotubular myopathy autosomal dominant form
• Peutz-Jeghers syndrome
• Spinocerebellar ataxia type-6
• Marfan Syndrome

References

• Gilbert F (1997). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 19". Genet Test 1 (2): 145–9. doi:10.1089/gte.1997.1.225. PMID 10464639. 
• Grimwood J, Gordon LA, Olsen A, Terry A, Schmutz J, Lamerdin J, Hellsten U, Goodstein D, Couronne O, Tran-Gyamfi M, Aerts A, Altherr M, Ashworth L, Bajorek E, Black S, Branscomb E, Caenepeel S, Carrano A, Caoile C, Chan YM, Christensen M, Cleland CA, Copeland A, Dalin E, Dehal P, Denys M, Detter JC, Escobar J, Flowers D, Fotopulos D, Garcia C, Georgescu AM, Glavina T, Gomez M, Gonzales E, Groza M, Hammon N, Hawkins T, Haydu L, Ho I, Huang W, Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Larionov V, Leem SH, Lopez F, Lou Y, Lowry S, Malfatti S, Martinez D, McCready P, Medina C, Morgan J, Nelson K, Nolan M, Ovcharenko I, Pitluck S, Pollard M, Popkie AP, Predki P, Quan G, Ramirez L, Rash S, Retterer J, Rodriguez A, Rogers S, Salamov A, Salazar A, She X, Smith D, Slezak T, Solovyev V, Thayer N, Tice H, Tsai M, Ustaszewska A, Vo N, Wagner M, Wheeler J, Wu K, Xie G, Yang J, Dubchak I, Furey TS, DeJong P, Dickson M, Gordon D, Eichler EE, Pennacchio LA, Richardson P, Stubbs L, Rokhsar DS, Myers RM, Rubin EM, Lucas SM (2004). "The DNA sequence and biology of human chromosome 19". Nature 428 (6982): 529–35. doi:10.1038/nature02399. PMID 15057824. 
• Texas School for the Blind and Visually Impaired website~ http://www.tsbvi.edu/Outreach/seehear/spring01/lebers.htm

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