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Chromosome 14 is one of the 23 pairs of
chromosomeA chromosome is an organized structure of DNA and protein that is 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...
s in
humanHumans are bipedal primates belonging to the species Homo sapiens in Hominidae, the great ape family. They are the only surviving member of the genus Homo. Humans have a highly developed brain, capable of abstract reasoning, language, introspection, and problem solving...
s. People normally have two copies of this chromosome. Chromosome 14 spans about 105 million
base pairIn molecular biology, two nucleotides on opposite complementary DNA or RNA strands that are connected via hydrogen bonds are called a base pair . In the canonical Watson-Crick base pairing, adenine forms a base pair with thymine , as does guanine with cytosine in DNA. In RNA, thymine is replaced...
s (the building material of
DNADeoxyribonucleic acid is a nucleic acid that contains the genetic instructions used in the development and functioning of all known living organisms and some viruses. The main role of DNA molecules is the long-term storage of information...
) and represents between 3 and 3.5% of the total DNA in
cellsThe cell is the basic structural and functional unit of all known living organisms. It is the smallest unit of an organism that is classified as living, and is often called the building block of life. The Alberts text discusses how the "cellular building blocks" move to shape developing embryos...
.
Identifying
geneA gene is the basic unit of heredity in a living organism. All living things depend on genes. Genes hold the information to build and maintain their cells and pass genetic traits to offspring...
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.
Discussion
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right
Chromosome 14 is one of the 23 pairs of
chromosomeA chromosome is an organized structure of DNA and protein that is 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...
s in
humanHumans are bipedal primates belonging to the species Homo sapiens in Hominidae, the great ape family. They are the only surviving member of the genus Homo. Humans have a highly developed brain, capable of abstract reasoning, language, introspection, and problem solving...
s. People normally have two copies of this chromosome. Chromosome 14 spans about 105 million
base pairIn molecular biology, two nucleotides on opposite complementary DNA or RNA strands that are connected via hydrogen bonds are called a base pair . In the canonical Watson-Crick base pairing, adenine forms a base pair with thymine , as does guanine with cytosine in DNA. In RNA, thymine is replaced...
s (the building material of
DNADeoxyribonucleic acid is a nucleic acid that contains the genetic instructions used in the development and functioning of all known living organisms and some viruses. The main role of DNA molecules is the long-term storage of information...
) and represents between 3 and 3.5% of the total DNA in
cellsThe cell is the basic structural and functional unit of all known living organisms. It is the smallest unit of an organism that is classified as living, and is often called the building block of life. The Alberts text discusses how the "cellular building blocks" move to shape developing embryos...
.
Identifying
geneA gene is the basic unit of heredity in a living organism. All living things depend on genes. Genes hold the information to build and maintain their cells and pass genetic traits to offspring...
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 14 likely contains between 700 and 1,300 genes.
Genes
The following are some of the genes located on chromosome 14:
- COCH
Cochlin is a protein that in humans is encoded by the COCH gene.-Further reading:...
: coagulation factor C homolog, cochlin (Limulus polyphemus)
- GALC: galactosylceramidase (Krabbe disease)
- GCH1: GTP cyclohydrolase 1 (dopa-responsive dystonia)
- IGH@
Immunoglobulin heavy locus, also known as IGH@, is a region on human chromosome 14 that contains a gene for the heavy chains of human antibodies .-Further reading:...
: immunoglobulinAntibodies are gamma globulin proteins that are found in blood or other bodily fluids of vertebrates, and are used by the immune system to identify and neutralize foreign objects, such as bacteria and viruses...
heavy chain]The immunoglobulin heavy chain is the large polypeptide subunit of an antibody.A typical antibody is composed of two immunoglobulin heavy chains and two Ig light chains. Several different types of heavy chain exist that define the class or isotype of an antibody. These heavy chain types vary...
locus
- NPC2
NPC2 is a protein associated with Niemann-Pick disease, type C....
: Niemann-Pick disease, type C2
- PSEN1
Presenilin-1 is a protein that in humans is encoded by the PSEN1 gene.-Interactions:PSEN1 has been shown to interact with ICAM5, UBQLN1, Beta-catenin, FLNB, Glial fibrillary acidic protein, Nicastrin, CTNND1, PKP4, Bcl-2 and Calsenilin....
: 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
Congenital 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...
- Krabbe disease
Krabbe disease is a rare, often fatal degenerative disorder that affects the myelin sheath of the nervous system. This condition is inherited in an autosomal recessive pattern...
- Machado-Joseph disease
Machado-Joseph disease or Spinocerebellar ataxia type 3 is an extremely rare hereditary ataxia, which means a lack of muscle control. It is caused by a certain mutation that results in degeneration of cells in the hindbrain...
- multiple myeloma
Multiple myeloma , also known as MM, myeloma, plasma cell myeloma, or as Kahler's disease is a cancer of the white blood cells known as plasma cells. A type of B cell, plasma cells are a crucial part of the immune system responsible for the production of antibodies in humans and other vertebrates...
- Niemann-Pick disease
Niemann–Pick disease refers to a group of fatal inherited metabolic disorders that are included in the larger family of lysosomal storage diseases .-Pathophysiology:...
- nonsyndromic deafness
Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. In contrast, syndromic deafness involves hearing loss that occurs with abnormalities in other parts of the body....
- nonsyndromic deafness, autosomal dominant
- tetrahydrobiopterin deficiency
Tetrahydrobiopterin deficiency , also called THB or BH
4 deficiency, is a rare metabolic disorder that increases the blood levels of phenylalanine. Phenylalanine is an amino acid obtained through the diet. It is found in all proteins and in some artificial sweeteners...