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Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

Chromosome 19

What is chromosome 19?

Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 19, one copy inherited from each parent, form one of the pairs. Chromosome 19 spans about 59 million base pairs (the building blocks of DNA) and represents almost 2 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 about 1,500 genes that provide instructions for making proteins. These proteins perform a variety of different roles in the body.

Genes on chromosome 19 are among the estimated 20,000 to 25,000 total genes in the human genome.

Genetics Home Reference includes these genes on chromosome 19:

  • ACP5
  • ADAMTS10
  • AMH
  • APOE
  • ATP1A3
  • BCKDHA
  • C3
  • C19orf12
  • CACNA1A
  • CALR
  • CEBPA
  • COMP
  • CRLF1
  • DLL3
  • DMPK
  • DNM2
  • DNMT1
  • DOCK6
  • ELANE
  • EPOR
  • ERCC2
  • ETFB
  • ETHE1
  • FKRP
  • FTL
  • GAMT
  • GCDH
  • GPI
  • GYS1
  • HAMP
  • ITPKC
  • LDLR
  • MAN2B1
  • MAP2K2
  • MCOLN1
  • MEGF8
  • NLRP12
  • NOTCH3
  • OPA3
  • PEPD
  • PRX
  • PSENEN
  • RNASEH2A
  • RPS19
  • RYR1
  • SIX5
  • SLC5A5
  • SLC7A9
  • SMARCA4
  • STK11
  • TGFB1
  • TNNI3
  • TSEN34
  • TYROBP

How are changes in chromosome 19 related to health conditions?

Many genetic conditions are related to changes in particular genes on chromosome 19. This list of disorders associated with genes on chromosome 19 provides links to additional information.

Genetics Home Reference includes these conditions related to genes on chromosome 19:

  • Adams-Oliver syndrome
  • age-related macular degeneration
  • Aicardi-Goutieres syndrome
  • alpha-mannosidosis
  • alternating hemiplegia of childhood
  • Alzheimer disease
  • atypical hemolytic-uremic syndrome
  • branchiootorenal syndrome
  • breast cancer
  • Camurati-Engelmann disease
  • cardiofaciocutaneous syndrome
  • Carpenter syndrome
  • central core disease
  • centronuclear myopathy
  • cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
  • Charcot-Marie-Tooth disease
  • Coffin-Siris syndrome
  • cold-induced sweating syndrome
  • congenital fiber-type disproportion
  • congenital hypothyroidism
  • Costeff syndrome
  • cyclic neutropenia
  • cystinuria
  • cytogenetically normal acute myeloid leukemia
  • dense deposit disease
  • Diamond-Blackfan anemia
  • episodic ataxia
  • essential thrombocythemia
  • ethylmalonic encephalopathy
  • familial acute myeloid leukemia with mutated CEBPA
  • familial cold autoinflammatory syndrome
  • familial dilated cardiomyopathy
  • familial erythrocytosis
  • familial hemiplegic migraine
  • familial hypertrophic cardiomyopathy
  • familial restrictive cardiomyopathy
  • glucose phosphate isomerase deficiency
  • glutaric acidemia type I
  • glutaric acidemia type II
  • glycogen storage disease type 0
  • guanidinoacetate methyltransferase deficiency
  • hemochromatosis
  • hereditary sensory and autonomic neuropathy type IE
  • hidradenitis suppurativa
  • hypercholesterolemia
  • hyperferritinemia-cataract syndrome
  • Kawasaki disease
  • limb-girdle muscular dystrophy
  • malignant hyperthermia
  • maple syrup urine disease
  • mitochondrial membrane protein-associated neurodegeneration
  • mucolipidosis type IV
  • multiminicore disease
  • multiple epiphyseal dysplasia
  • myotonic dystrophy
  • neuroferritinopathy
  • persistent Müllerian duct syndrome
  • Peutz-Jeghers syndrome
  • polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
  • pontocerebellar hypoplasia
  • primary myelofibrosis
  • prolidase deficiency
  • pseudoachondroplasia
  • rapid-onset dystonia parkinsonism
  • severe congenital neutropenia
  • spinocerebellar ataxia type 6
  • spondylocostal dysostosis
  • spondyloenchondrodysplasia with immune dysregulation
  • sporadic hemiplegic migraine
  • trichothiodystrophy
  • Walker-Warburg syndrome
  • Weill-Marchesani syndrome
  • xeroderma pigmentosum

Is there a standard way to diagram chromosome 19?

Geneticists use diagrams called ideograms as a standard representation for chromosomes. Ideograms show a chromosome's relative size and its banding pattern. A banding pattern is the characteristic pattern of dark and light bands that appears when a chromosome is stained with a chemical solution and then viewed under a microscope. These bands are used to describe the location of genes on each chromosome.

Ideogram of chromosome 19
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about chromosome 19?

You may find the following resources about chromosome 19 helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What glossary definitions help with understanding chromosome 19?

cell ; chromosome ; DNA ; inherited

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Ensembl Human Map View: Chromosome 19 (http://www.ensembl.org/Homo_sapiens/Location/Chromosome?chr=19;r=19:1-58617616)
  • Gilbert F. Disease genes and chromosomes: disease maps of the human genome. Chromosome 19. Genet Test. 1997;1(2):145-9. (http://www.ncbi.nlm.nih.gov/pubmed/10464639?dopt=Abstract)
  • 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. The DNA sequence and biology of human chromosome 19. Nature. 2004 Apr 1;428(6982):529-35. (http://www.ncbi.nlm.nih.gov/pubmed/15057824?dopt=Abstract)
  • Map Viewer: Genes on Sequence (http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?ORG=human&MAPS=ideogr,ugHs,genes&CHR=19)
  • UCSC Genome Browser (http://genome.cse.ucsc.edu/goldenPath/stats.html)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Published: October 20, 2014