Chromosome 19 (human)
Encyclopedia
Chromosome
A chromosome is an organized structure of DNA and protein found in cells. It is a single piece of coiled DNA containing many genes, regulatory elements and other nucleotide sequences. Chromosomes also contain DNA-bound proteins, which serve to package the DNA and control its functions.Chromosomes...
s in human
Human
Humans are the only living species in the Homo genus...
s. People normally have two copies of this chromosome. Chromosome 19 spans more than 63 million base pair
Base pair
In molecular biology and genetics, the linking between two nitrogenous bases on opposite complementary DNA or certain types of RNA strands that are connected via hydrogen bonds is called a base pair...
s (the building material of DNA
DNA
Deoxyribonucleic acid is a nucleic acid that contains the genetic instructions used in the development and functioning of all known living organisms . The DNA segments that carry this genetic information are called genes, but other DNA sequences have structural purposes, or are involved in...
) and represents between 2 and 2.5 percent of the total DNA in cells
Cell (biology)
The cell is the basic structural and functional unit of all known living organisms. It is the smallest unit of life that is classified as a living thing, and is often called the building block of life. The Alberts text discusses how the "cellular building blocks" move to shape developing embryos....
.
Identifying gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
s 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:- A1BG: Plasma glycoprotein, unknown function. Gene map locus 19q13.43
- APOEApolipoprotein EApolipoprotein E is a class of apolipoprotein found in the chylomicron and IDLs that binds to a specific receptor on liver cells and peripheral cells. It is essential for the normal catabolism of triglyceride-rich lipoprotein constituents.-Function:...
: Apolipoprotein E, gene associated with Alzheimer's diseaseAlzheimer's diseaseAlzheimer's disease also known in medical literature as Alzheimer disease is the most common form of dementia. There is no cure for the disease, which worsens as it progresses, and eventually leads to death... - BCKDHABCKDHA2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial is an enzyme that in humans is encoded by the BCKDHA gene.-Further reading:...
: Branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine diseaseMaple syrup urine diseaseMaple syrup urine disease , also called branched-chain ketoaciduria, is an autosomal recessive metabolic disorder affecting branched-chain amino acids. It is one type of organic acidemia...
) - CACNA1A: Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit, mutations of which are associated with Familial hemiplegic migraineFamilial hemiplegic migraineFamilial hemiplegic migraine is an autosomal dominant classical migraine subtype that typically includes hemiparesis during the aura phase. It can be accompanied by other symptoms, such as ataxia, coma and epileptic seizures...
Type I - DMPK: Dystrophia myotonica-protein kinase
- EYCL1EYCL1EYCL1 is a human pigment gene. It influences hair, skin, and eye colors. The gene is located on chromosome 19....
: EYE COLOR 1; EYE COLOR, GREEN/BLUE; GEY. Gene map locus 19p13.1-q13.11 - GCDH: Glutaryl-Coenzyme A dehydrogenase
- HAMPHAMPHepcidin is a protein that in humans is encoded by the HAMP gene.The product encoded by this gene is involved in the maintenance of iron homeostasis, and it is necessary for the regulation of iron storage in macrophages, and for intestinal iron absorption...
: Hepcidin antimicrobial peptide - HCL1: HAIR COLOR 1; BROWN HAIR COLOR; BRHC. Gene map locus 19p13.1-q13.11
- ICAM4ICAM4The LW blood system was first described by Landsteiner and Weiner in 1940. It was often confused with the Rh system, not becoming a separate antigen system until 1982. The LW and RhD antigens are genetically independent though they are phenotypically related and the LW antigen is expressed more...
: Landsteiner and Weiner glycoprotein - KLK3: The Prostate-specific antigen (PSA)
- MCPH2MicrocephalinMicrocephalin is one of six genes causing primary microcephaly when non-functional mutations exist in the homozygous state...
: microcephaly, primary autosomal recessive 2 - NOTCH3: Notch homolog 3 (Drosophila)
- NRTN: Neurturin, associated with Hirschsprung's diseaseHirschsprung's diseaseHirschsprung's disease , or congenital aganglionic megacolon is a serious medical problem where the enteric nervous system is missing from the end of the bowel. The enteric nervous system is a complex network of neurons and glia that controls most aspects of intestinal function...
- NWD1NWD1NWD1, short for NACHT and WD repeat domain containing 1, is a gene found in vertebrates, which encodes a protein that contains a NACHT domain and a WD40 repeat domain. It was originally identified during a search for immune system genes in zebrafish as a protein coding sequence related to APAF1;...
: NACHT and WD repeat domain containing 1. - PEX11GPEX11GPEX11G is a human gene that encodes the peroxisomal biogenesis factor 11 gamma for peroxisomes. It is located on chromosome 19....
: peroxisomal biogenesis factor 11 gamma - PRXPRX (gene)Periaxin is a protein that in humans is encoded by the PRX gene.-External links:*...
: Periaxin - SLC5A5: Solute carrier family 5 (sodium iodide symporter), member 5
- STK11STK11Serine/threonine kinase 11 also known as liver kinase B1 or renal carcinoma antigen NY-REN-19 is a protein kinase that in humans is encoded by the STK11 gene.-Expression:...
: Serine/threonine kinase 11 (Peutz-Jeghers syndrome)
Diseases & disorders
The following diseases are some of those related to genes on chromosome 19:- Alzheimer's diseaseAlzheimer's diseaseAlzheimer's disease also known in medical literature as Alzheimer disease is the most common form of dementia. There is no cure for the disease, which worsens as it progresses, and eventually leads to death...
- CADASILCADASILCADASIL is the most common form of hereditary stroke disorder, and is thought to be caused by mutations of the Notch 3 gene on chromosome 19. The disease belongs to a family of disorders called the Leukodystrophies...
- Centronuclear myopathyCentronuclear myopathyCentronuclear myopathies are a group of congenital myopathies where cell nuclei are abnormally located in skeletal muscle cells. In CNM the nuclei are located at a position in the center of the cell, instead of their normal location at the periphery....
autosomal dominant form - Charcot-Marie-Tooth diseaseCharcot-Marie-Tooth diseaseCharcot–Marie–Tooth disease- , known also as Morbus Charcot-Marie-Tooth, Charcot-Marie-Tooth neuropathy, hereditary motor and sensory neuropathy , hereditary sensorimotor neuropathy , or peroneal muscular atrophy, is an inherited disorder of nerves that takes different forms...
- Congenital hypothyroidismCongenital hypothyroidismCongenital hypothyroidism is a condition of thyroid hormone deficiency present at birth. Approximately 1 in 4000 newborn infants has a severe deficiency of thyroid function, while even more have mild or partial degrees. If untreated for several months after birth, severe congenital hypothyroidism...
- Familial hemiplegic migraineFamilial hemiplegic migraineFamilial hemiplegic migraine is an autosomal dominant classical migraine subtype that typically includes hemiparesis during the aura phase. It can be accompanied by other symptoms, such as ataxia, coma and epileptic seizures...
- Glutaric acidemia type 1Glutaric acidemia type 1Glutaric acidemia type 1 is an inherited disorder in which the body is unable to break down completely the amino acids lysine, hydroxylysine and tryptophan...
- Hemochromatosis
- Leber's Congenital AmaurosisLeber's congenital amaurosisLeber's congenital amaurosis is a rare inherited eye disease that appears at birth or in the first few months of life, and affects around 1 in 80,000 of the population.It was first described by Theodor Leber in the 19th century...
- Maple syrup urine diseaseMaple syrup urine diseaseMaple syrup urine disease , also called branched-chain ketoaciduria, is an autosomal recessive metabolic disorder affecting branched-chain amino acids. It is one type of organic acidemia...
- Myotonic dystrophyMyotonic dystrophyMyotonic dystrophy is a chronic, slowly progressing, highly variable inherited multisystemic disease. It is characterized by wasting of the muscles , cataracts, heart conduction defects, endocrine changes, and myotonia. Myotonic dystrophy can occur in patients of any age...
- Myotubular myopathyCentronuclear myopathyCentronuclear myopathies are a group of congenital myopathies where cell nuclei are abnormally located in skeletal muscle cells. In CNM the nuclei are located at a position in the center of the cell, instead of their normal location at the periphery....
autosomal dominant form - Marfan SyndromeMarfan syndromeMarfan syndrome is a genetic disorder of the connective tissue. People with Marfan's tend to be unusually tall, with long limbs and long, thin fingers....
- OligodendrogliomaOligodendrogliomaOligodendrogliomas are a type of glioma that are believed to originate from the oligodendrocytes of the brain or from a glial precursor cell. They occur primarily in adults but are also found in children...
- Peutz-Jeghers syndromePeutz-Jeghers syndromePeutz–Jeghers syndrome, also known as hereditary intestinal polyposis syndrome, is an autosomal dominant genetic disease characterized by the development of benign hamartomatous polyps in the gastrointestinal tract and hyperpigmented macules on the lips and oral mucosa...
- Spinocerebellar ataxia type-6Spinocerebellar ataxia type-6Spinocerebellar ataxia type 6 is a rare, late-onset, autosomal dominant disorder, which, like other types of SCA, is characterized by dysarthria, oculomotor disorders, incontinence, peripheral neuropathy, and ataxia of gait, stance and the limbs due to cerebellar dysfunction. Unlike other types,...
- X-linked agammaglobulinemiaX-linked agammaglobulinemiaX-linked agammaglobulinemia is a rare X-linked genetic disorder that was discovered in 1952 which affects the body's ability to fight infection. XLA is an X-linked disorder, and therefore is more common in males...
or Bruton's Disease - Prolidase DeficiencyProlidase deficiencyProlidase deficiency is a rare autosomal recessiveinborn error of metabolism.Although metabolism of the amino acid proline is affected by the enzyme prolidase, this disorder is not to be confused with hyperprolinemia, which involves different enzymatyic pathways related to proline metabolism...
autosomal recessive
Proteins
The Human Proteome Project (HPP) has been initiated by Human Proteome OrganizationHuman Proteome Organization
The Human Proteome Organization is an international consortium of national proteomics research associations, government researchers, academic institutions, and industry partners...
(HUPO) aims to sequence the entire human proteome based on the advances in mass spectrometry and will build a global protein capture knowledge base with open sharing of proteome datasets. The proteome sequencing has been initiated with a chromosome centric and gene centric approach. Sequencing of chromosome 19 proteome will be coordinated by Prof. György Marko-Varga, Clinical Protein Science & Imaging Group, Lund University, Sweden.