The SLC26A2 protein

Protein

Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...

 is a member of the solute carrier family

Solute carrier family

The solute carrier group of membrane transport proteins include over 300 members organized into 51 families. The SLC gene nomenclature system was originally proposed by the Human Genome Organization and is the basis for the official HUGO names of the genes that encode these transporters...

. In humans, this transporter is encoded by the SLC26A2 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...

.

Function

The diastrophic dysplasia

Diastrophic dysplasia

Diastrophic dysplasia is an autosomal recessive dysplasia which affects cartilage and bone development....

 sulfate transporter is a transmembrane glycoprotein

Glycoprotein

Glycoproteins are proteins that contain oligosaccharide chains covalently attached to polypeptide side-chains. The carbohydrate is attached to the protein in a cotranslational or posttranslational modification. This process is known as glycosylation. In proteins that have segments extending...

 implicated in the pathogenesis of several human chondrodysplasias

Osteochondrodysplasia

Osteochondrodysplasia is a general term for a disorder of the development of bone and cartilage .-Achondroplasia:Achondroplasia is a type of autosomal dominant genetic disorder that is a common cause ofdwarfism...

. It apparently is critical in cartilage for sulfation of proteoglycans and extracellular matrix

Extracellular matrix

In biology, the extracellular matrix is the extracellular part of animal tissue that usually provides structural support to the animal cells in addition to performing various other important functions. The extracellular matrix is the defining feature of connective tissue in animals.Extracellular...

 organization.

Clinical significance

Deficiencies are associated with many forms of osteochondrodysplasia

Osteochondrodysplasia

Osteochondrodysplasia is a general term for a disorder of the development of bone and cartilage .-Achondroplasia:Achondroplasia is a type of autosomal dominant genetic disorder that is a common cause ofdwarfism...

. These include:

• achondrogenesis type 1B
  Achondrogenesis type 1B
  Achondrogenesis, type 1B is characterized by extremely short limbs, a narrow chest, and a prominent, rounded abdomen. The fingers and toes are short and the feet may be rotated inward...
  
  
• diastrophic dysplasia
  Diastrophic dysplasia
  Diastrophic dysplasia is an autosomal recessive dysplasia which affects cartilage and bone development....
  
  
• atelosteogenesis, type II
  Atelosteogenesis, type II
  Atelosteogenesis, type II is a severe disorder of cartilage and bone development. It is extremely rare, and infants with the disorder are usually stillborn, however those that that survive birth die soon after from respiratory failure.-Symptoms:...
  
  
• recessive multiple epiphyseal dysplasia
  Recessive multiple epiphyseal dysplasia
  Autosomal recessive multiple epiphyseal dysplasia , also called epiphyseal dysplasia, multiple, 4 , multiple epiphyseal dysplasia with clubfoot or –with bilayered patellae, is an autosomal recessive congenital disorder affecting cartilage and bone development...
  
  

External links

• GeneReviews/NCBI/NIH/UW entry on Multiple Epiphyseal Dysplasia, Recessive
• OMIM entries on Multiple Epiphyseal Dysplasia, Recessive
• GeneReviews/NCBI/NIH/UW entry on Atelosteogenesis Type 2,McAlister Dysplasia, de la Chapelle Dysplasia
• OMIM entries on Atelosteogenesis Type 2
• GeneReviews/NCBI/NIH/UW entry on Diastrophic Dysplasia