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 58.6 million base pairs, the building material of DNA.
Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies. In January 2017, two estimates differed by 22%, with one estimate giving 2,188 genes, and the other estimate giving 2,670 genes. Using either estimate, chromosome 19 has the highest gene density of all the 23 chromosomes.
The following are some of the genes located on chromosome 19:
ACSBG2: encoding enzyme Long-chain-fatty-acid—CoA ligase
ARMC6: encoding protein Armadillo repeat-containing protein 6
BTBD14B/NACC1: encoding protein Nucleus accumbens-associated protein 1
ATPase ASNA1: encoding enzyme ATPase ASNA1 also known as arsenical pump-driving ATPase and arsenite-stimulated ATPase
KLK3: The Prostate-specific antigen (PSA)
NWD1: NACHT and WD repeat domain containing 1.
PEX11G: peroxisomal biogenesis factor 11 gamma
PRX: Periaxin
SLC5A5: Solute carrier family 5 (sodium iodide symporter), member 5
STK11: Serine/threonine kinase 11 (Peutz-Jeghers syndrome)
ZNF649: Transcriptional suppressor
CACNA1A: Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (Familial hemiplegic migraine Type I). Gene map locus 19p13
COMP: Cartilage oligomeric matrix protein. Gene map locus 19p13.1
NOTCH3: Notch homolog 3 (Drosophila): Gene map locus 19p13.1-p13.2
GCDH: Glutaryl-Coenzyme A dehydrogenase. Gene map locus 19p13.2
BSG: Basigin (Ok blood group)/Extracellular matrix metalloproteinase inducer/CD147. Gene map locus 19p13.3
ICAM4: Landsteiner and Weiner glycoprotein. Gene map locus 19p13.3
NRTN: Neurturin, associated with Hirschsprung's disease: Gene locus map 19p13.3
HCL1: Hair Colour 1; Brown hair colour; BRHC. Gene map locus 19p13.1-q13.11 OMIM: 113750
EYCL1: Eye Colour 1; Eye colour, green/blue; GEY. Gene map locus 19p13.1-q13.11 OMIM: 227240
KLF2: Krüppel-like factor 2, also known as Lung Krüppel-like factor. Gene map locus 19p13.11 OMIM: 602016
HAMP: Hepcidin antimicrobial peptide. Gene map locus 19q13.12
BCKDHA: Branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease). Gene map location 19q13.1-q13.2
APOE: Apolipoprotein E, gene associated with Alzheimer's disease. Gene map locus 19q13.2
SARS2: seryl-tRNA synthetase 2, mitochondrial. Gene map locus 19q13.2
ATP1A3: ATPase. Gene map locus 19q13.31
DMPK: Dystrophia myotonica-protein kinase. Gene map locus 19q13.32
A1BG: Plasma glycoprotein, unknown function. Gene map locus 19q13.43
LRC: The Leukocyte Receptor Complex is a family of immunoreceptors expressed predominantly on monocytes and B cells and at lower levels on dendritic cells and natural killer (NK) cells. The LRC also includes the KIR locus. Gene map locus 19q13.4 OMIM: 604812
KPTN: Kaptin (actin binding protein) at the tips of stereocilia. Gene map locus 19q13.4
FUT1: The H locus is located on chromosome 19 at 19q13.3. It contains three exons that span more than 5 kb of genomic DNA, and it encodes a fucosyltransferase that produces the H antigen on RBCs.
FUT2: The Se locus is located on chromosome 19 at 19q13.3. It contains two exons that span about 25 kb of genomic DNA. The Se locus encodes a specific fucosyltransferase that is expressed in the epithelia of secretory tissues, such as salivary glands, the gastrointestinal tract, and the respiratory tract. The enzyme it encodes catalyzes the production of H antigen.
MORT (Mortal Obligate RNA Transcript, lincRNA): Gene map locus 19q13.43
Diseases and disorders
The following diseases are some of those related to genes on chromosome 19:
Alternating hemiplegia of childhood
Alzheimer's disease
CADASIL
Centronuclear myopathy autosomal dominant form
Charcot-Marie-Tooth disease
Congenital hearing loss
Congenital hypothyroidism
Donohue syndrome
Familial hemiplegic migraine
Glutaric acidemia type 1
Hemochromatosis
HUPRA syndrome
Leber's Congenital Amaurosis
Maple syrup urine disease
Marfan Syndrome
Multiple epiphyseal dysplasia
Myotonic dystrophy
Myotubular myopathy autosomal dominant form
Oligodendroglioma
Peutz-Jeghers syndrome
Prolidase deficiency
Pseudoachondroplasia
Spinocerebellar ataxia type-6
X-linked agammaglobulinemia or Bruton's Disease
