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Solute carrier family 26

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] (from NCBI)
Top mentioned proteins: HAD, CAN, DRA, PGD2, Comp
Papers on DTDST
RNA-Seq identifies SPGs as a ventral skeletal patterning cue in sea urchins.
Bradham et al., Boston, United States. In Development, Feb 2016
Among these, we show that SLC26a2/7 is a ventrally expressed sulfate transporter which promotes a ventral accumulation of sulfated proteoglycans that is required for ventral PMC positioning and skeletal patterning.
Effect of SLC26 Anion Transporter Disease-causing Mutations on the Stability of the Homologous STAS Domain of E. coli DauA (YchM).
Reithmeier et al., Toronto, Canada. In Biochem J, Jan 2016
Mutations in these genes cause a plethora of diseases such as Diastrophic Dysplasia affecting sulfate uptake into chondrocytes (SLC26A2), Congenital Chloride Losing Diarrhea (SLC26A3) affecting chloride secretion in the intestine, and Pendred Syndrome (SLC26A4) resulting in hearing loss.
N-acetylcysteine treatment ameliorates the skeletal phenotype of a mouse model of diastrophic dysplasia.
Rossi et al., Pavia, Italy. In Hum Mol Genet, Nov 2015
Diastrophic dysplasia (DTD) is a recessive chondrodysplasia caused by mutations in SLC26A2, a cell membrane sulfate-chloride antiporter.
Dysplastic spondylolysis is caused by mutations in the diastrophic dysplasia sulfate transporter gene.
Luo et al., Wenzhou, China. In Proc Natl Acad Sci U S A, Jul 2015
We identified a novel heterozygous mutation (c.2286A > T; p.D673V) in the sulfate transporter gene SLC26A2 in five affected subjects of a Chinese family.
SLC26A2 disease spectrum in Sweden - high frequency of recessive multiple epiphyseal dysplasia (rMED).
Nordgren et al., Stockholm, Sweden. In Clin Genet, Mar 2015
Diastrophic dysplasia (DTD) is an autosomal recessive skeletal dysplasia caused by SLC26A2 mutations.
Multiple epiphyseal dysplasia.
Masini et al., In J Am Acad Orthop Surg, Mar 2015
The autosomal recessive variant is caused by a mutation of the sulfate transporter gene SLC26A2.
B-RAF mutation and accumulated gene methylation in aberrant crypt foci (ACF), sessile serrated adenoma/polyp (SSA/P) and cancer in SSA/P.
Takayama et al., Tokushima, Japan. In Br J Cancer, Feb 2015
The most commonly methylated genes in SSA/P were PQLC1, HDHD3, RASL10B, FLI1, GJA3, and SLC26A2.
Solute Carrier Family 26 Member a2 (slc26a2) Regulates Otic Development and Hair Cell Survival in Zebrafish.
Ma et al., Shanghai, China. In Plos One, 2014
Among the 300 newly identified candidate deafness genes, slc26a2 were selected for functional studies in zebrafish.
Fibronectin matrix assembly is essential for cell condensation during chondrogenesis.
Schwarzbauer et al., Princeton, United States. In J Cell Sci, 2014
Using mesenchymal stem cells (MSCs) in an in vitro chondrogenesis assay, we found that knockdown of the diastrophic dysplasia (DTD) sulfate transporter (DTDST, also known as SLC26A2), which is required for normal cartilage development, blocked cell condensation and caused a significant reduction in fibronectin matrix.
Functional interaction of the cystic fibrosis transmembrane conductance regulator with members of the SLC26 family of anion transporters (SLC26A8 and SLC26A9): physiological and pathophysiological relevance.
Touré et al., Paris, France. In Int J Biochem Cell Biol, 2014
Importantly, mutations in SLC26A2, A3, A4, and A5 have been associated with distinct human genetic recessive disorders (i.e.
N-glycosylation and topology of the human SLC26 family of anion transport membrane proteins.
Reithmeier et al., Toronto, Canada. In Am J Physiol Cell Physiol, 2014
While most proteins were observed to contain both high-mannose and complex oligosaccharides, SLC26A2 was mainly in the complex form, SLC26A4 in the high-mannose form, and SLC26A8 was not N-glycosylated.
The SLC26 gene family of anion transporters and channels.
Sharma et al., Boston, United States. In Mol Aspects Med, 2013
Mutations in three human SLC26 genes are associated with congenital or early onset Mendelian diseases: chondrodysplasias for SLC26A2, chloride diarrhea for SLC26A3, and deafness with enlargement of the vestibular aqueduct for SLC26A4.
Diastrophic dysplasia: prenatal diagnosis and review of the literature.
Nardozza et al., Curitiba, Brazil. In Sao Paulo Med J, 2012
CONTEXT: Diastrophic dysplasia is a type of osteochondrodysplasia caused by homozygous mutation in the gene DTDST (diastrophic dysplasia sulfate transporter gene).
Matrix disruptions, growth, and degradation of cartilage with impaired sulfation.
Forlino et al., Bethesda, United States. In J Biol Chem, 2012
a Slc26a2 mutation results in matrix disruptions, growth, and degradation of cartilage with impaired sulfation
Solute carrier family 26 member a2 (Slc26a2) protein functions as an electroneutral SOFormula/OH-/Cl- exchanger regulated by extracellular Cl-.
Muallem et al., Bethesda, United States. In J Biol Chem, 2012
Solute carrier family 26 member a2 (Slc26a2) protein functions as an electroneutral SOFormula/OH-/Cl- exchanger regulated b
Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.
Briggs et al., Manchester, United Kingdom. In Hum Mutat, 2012
73% of autosomal-recessive multiple epiphyseal dysplasia patients were either homozygous, or compound heterozygous, for SLC26A2 mutations.
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population.
Bonafé et al., Porto, Portugal. In Clin Genet, 2011
Mutations in the SLC26A2 gene causes diastrophic dysplasia.
New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene.
Kozlowski et al., New Orleans, United States. In Am J Med Genet A, 2010
New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene is reported.
Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family.
Pauli et al., Madison, United States. In Am J Med Genet A, 2010
Analysis suggests that, while the DTDST family of disorders contains at least seven different conditions, gene mutations appear to cause a phenotypic continuum. DTDST genotype alone is an imperfect predictor of clinical severity along this continuum.
Physiological roles and regulation of mammalian sulfate transporters.
Markovich, Brisbane, Australia. In Physiol Rev, 2001
These include the renal sulfate transporters NaSi-1 and sat-1, the ubiquitously expressed diastrophic dysplasia sulfate transporter DTDST, the intestinal sulfate transporter DRA that is linked to congenital chloride diarrhea, and the erythrocyte anion exchanger AE1.
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