Human solute carrier family 26 (sulfate transporter) , member 2 ELISA Kit | SLC26A2 elisa kit
Human Sulfate transporter, SLC26A2 ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
The diastrophic dysplasia sulfate transporter is a transmembrane glycoprotein implicated in the pathogenesis of several human chondrodysplasias. It apparently is critical in cartilage for sulfation of proteoglycans and matrix organization. [provided by RefSeq, Jul 2008]
Uniprot Description
SLC26A2: Sulfate transporter. May play a role in endochondral bone formation. Defects in SLC26A2 are the cause of diastrophic dysplasia (DTD). DTD is an autosomal recessive disease characterized by osteochondrodysplasia with clinical features including dwarfism, spinal deformation, and specific joint abnormalities. Defects in SLC26A2 are the cause of achondrogenesis type 1B (ACG1B). ACG1B is a recessively inherited chondrodysplasia characterized by extremely poor skeletal development and perinatal death. Defects in SLC26A2 are the cause of atelosteogenesis type 2 (AO2); also known as neonatal osseous dysplasia 1. AO2 is characterized by severely shortened limbs, small chest, scoliosis, club foot of the equinovarus type (talipes equinovarus), abducted thumbs and great toes, and cleft palate. Patients die of respiratory insufficiency shortly after birth because of the collapse of the airways and pulmonary hypoplasia due to the small rib cage. Defects in SLC26A2 are the cause of multiple epiphyseal dysplasia type 4 (EDM4). EDM is a generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. EDM is broadly categorized into the more severe Fairbank and the milder Ribbing types. EDM4 is a recessively inherited form, characterized by early childhood-onset hip dysplasia and recurrent patella dislocation. Short stature in EDM4 patients is not frequent. Belongs to the SLC26A/SulP transporter (TC 2.A.53) family.
Protein type: Transporter, SLC family; Transporter; Membrane protein, multi-pass; Membrane protein, integral
Chromosomal Location of Human Ortholog: 5q31-q34
Cellular Component: membrane; integral to plasma membrane; plasma membrane
Molecular Function: sulfate transmembrane transporter activity; secondary active sulfate transmembrane transporter activity
Biological Process: ossification; glycosaminoglycan metabolic process; xenobiotic metabolic process; carbohydrate metabolic process; sulfate transport; ion transport; pathogenesis; transmembrane transport; 3'-phosphoadenosine 5'-phosphosulfate metabolic process; 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process
Disease: Atelosteogenesis, Type Ii; Diastrophic Dysplasia; Achondrogenesis, Type Ib; Epiphyseal Dysplasia, Multiple, 4
Research Articles on SLC26A2
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Product Notes
The Human SLC26A2 slc26a2 (Catalog #AAA9324090) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9324090 ELISA Kit recognizes Human SLC26A2. It is sometimes possible for the material contained within the vial of "solute carrier family 26 (sulfate transporter) , member 2, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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