Chromosome 14 (human)
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Chromosome 14 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 14 spans about 87 million base pairs (the building material of DNA) and represents between 3 and 3.5% 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 r of genes varies. Chromosome 14 likely contains between 700 and 1,300 genes.

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)
• IGH@: immunoglobulin heavy chain locus
• 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

Diseases & disorders

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

• alpha-1 antitrypsin deficiency
• Alzheimer disease
• Alzheimer disease, type 3
• congenital hypothyroidism
• Krabbe disease
• Machado-Joseph disease
• multiple myeloma
• Niemann-Pick disease
• nonsyndromic deafness
• nonsyndromic deafness, autosomal dominant
• tetrahydrobiopterin deficiency

References

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• Kamnasaran D, Cox DW (2002). "Current status of human chromosome 14". J Med Genet 39 (2): 81–90. doi:10.1136/jmg.39.2.81. PMID 11836355. 
• Lemire EG, Cardwell S (1999). "Unusual phenotype in partial trisomy 14". Am J Med Genet 87 (4): 294–6. doi:10.1002/(SICI)1096-8628(19991203)87:4<294::AID-AJMG2>3.0.CO;2-S. PMID 10588832. 
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