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Chromosome 14.jpeg

Chromosome 14 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 14 spans about 109 million base pairs (the building material of DNA) and represents between 3 and 3.5 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 14 likely contains between 700 and 1,200 genes.


The following are some of the genes located on chromosome 14:

  • COCH: coagulation factor C homolog, cochlin (Limulus polyphemus)
  • GALC: galactosylceramidase (Krabbe disease)
  • GCH1: GTP cyclohydrolase 1 (dopa-responsive dystonia)
  • NPC2: Niemann-Pick disease, type C2
  • PSEN1: presenilin 1 (Alzheimer disease 3)
  • SERPINA1: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
  • TSHR: thyroid stimulating hormone receptor


The following diseases are some of those related to genes on chromosome 14:


  • Campo E (2003). Genetic and molecular genetic studies in the diagnosis of B-cell lymphomas I: mantle cell lymphoma, follicular lymphoma, and Burkitt's lymphoma. Hum Pathol 34 (4): 330-5. PMID 12733111.
  • Gilbert F (1999). Disease genes and chromosomes: disease maps of the human genome. Chromosome 14. Genet Test 3 (4): 379-91. PMID 10627948.
  • Heilig R, Eckenberg R, Petit JL, Fonknechten N, Da Silva C, Cattolico L, Levy M, Barbe V, de Berardinis V, Ureta-Vidal A, Pelletier E, Vico V, Anthouard V, Rowen L, Madan A, Qin S, Sun H, Du H, Pepin K, Artiguenave F, Robert C, Cruaud C, Bruls T, Jaillon O, Friedlander L, Samson G, Brottier P, Cure S, Segurens B, Aniere F, Samain S, Crespeau H, Abbasi N, Aiach N, Boscus D, Dickhoff R, Dors M, Dubois I, Friedman C, Gouyvenoux M, James R, Madan A, Mairey-Estrada B, Mangenot S, Martins N, Menard M, Oztas S, Ratcliffe A, Shaffer T, Trask B, Vacherie B, Bellemere C, Belser C, Besnard-Gonnet M, Bartol-Mavel D, Boutard M, Briez-Silla S, Combette S, Dufosse-Laurent V, Ferron C, Lechaplais C, Louesse C, Muselet D, Magdelenat G, Pateau E, Petit E, Sirvain-Trukniewicz P, Trybou A, Vega-Czarny N, Bataille E, Bluet E, Bordelais I, Dubois M, Dumont C, Guerin T, Haffray S, Hammadi R, Muanga J, Pellouin V, Robert D, Wunderle E, Gauguet G, Roy A, Sainte-Marthe L, Verdier J, Verdier-Discala C, Hillier L, Fulton L, McPherson J, Matsuda F, Wilson R, Scarpelli C, Gyapay G, Wincker P, Saurin W, Quetier F, Waterston R, Hood L, Weissenbach J (2003). The DNA sequence and analysis of human chromosome 14. Nature 421 (6923): 601-7. PMID 12508121.
  • Kamnasaran D, Cox DW (2002). Current status of human chromosome 14. J Med Genet 39 (2): 81-90. PMID 11836355.
  • Lemire EG, Cardwell S (1999). Unusual phenotype in partial trisomy 14. Am J Med Genet 87 (4): 294-6. PMID 10588832.
  • van Karnebeek CD, Quik S, Sluijter S, Hulsbeek MM, Hoovers JM, Hennekam RC (2002). Further delineation of the chromosome 14q terminal deletion syndrome. Am J Med Genet 110 (1): 65-72. PMID 12116274.

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}

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