Chromosome14 is one of the 23 pairs of chromosome

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 14 spans about 109 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 3 and 3.5% 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 14 likely contains between 700 and 1,300 genes.

Genes

The following are some of the genes located on chromosome 14:

• COCH
  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@
  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:...
  
  : immunoglobulin
  Antibody
  An antibody, also known as an immunoglobulin, is a large Y-shaped protein used by the immune system to identify and neutralize foreign objects such as bacteria and viruses. The antibody recognizes a unique part of the foreign target, termed an antigen...
  
   heavy chain
  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
• IFT43: intraflagellar transport 43
• NPC2
  NPC2
  NPC2 is a protein associated with Niemann-Pick disease, type C....
  
  : Niemann-Pick disease, type C2
• PSEN1
  PSEN1
  Presenilin-1 is a protein that in humans is encoded by the PSEN1 gene.- Function :Alzheimer's disease patients with an inherited form of the disease carry mutations in the presenilin proteins or the amyloid precursor protein...
  
  : 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
  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...
  
  
• dopamine-responsive dystonia
  Dopamine-responsive dystonia
  Dopamine-responsive dystonia , also known as hereditary progressive dystonia with diurnal fluctuation, Segawa's disease, or Segawa's dystonia, is a genetic movement disorder which usually manifests itself during early childhood at around ages 5–8 years .Characteristic symptoms are increased muscle...
  
  
• Krabbe disease
  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
  Machado–Joseph disease or Spinocerebellar ataxia type 3 is a rare autosomal, dominantly inherited neurodegenerative disease that causes progressive cerebellar ataxia, which results in a lack of muscle control and coordination of the upper and lower extremities...
  
  
• multiple myeloma
  Multiple myeloma
  Multiple myeloma , also known as plasma cell myeloma or Kahler's disease , is a cancer of plasma cells, a type of white blood cell normally responsible for the production of antibodies...
  
  
• Niemann-Pick disease
  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 .-Signs and symptoms:Symptoms are related to the organs in which they accumulate...
  
  
• nonsyndromic deafness
  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
• Sensenbrenner syndrome
  Sensenbrenner syndrome
  Sensenbrenner syndrome is a rare multisystem disease first described in 1975. It is inherited in an autosomal recessive fashion, and a number of genes appear to be responsible...
  
  
• tetrahydrobiopterin deficiency
  Tetrahydrobiopterin deficiency
  Tetrahydrobiopterin deficiency , also called THB or BH4 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...
  
  
• Uniparental disomy
  Uniparental disomy
  Uniparental disomy occurs when a person receives two copies of a chromosome, or part of a chromosome, from one parent and no copies from the other parent.. UPD could involve isodisomy or heterodisomy ....
  
  (UPD) 14