| CHST14 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | CHST14 , ATCS, D4ST1, EDSMC1, HNK1ST, carbohydrate sulfotransferase 14 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 608429 MGI: 1919386 HomoloGene: 12443 GeneCards: CHST14 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Carbohydrate sulfotransferase 14 is an enzyme that in humans is encoded by the CHST14 gene. [5] [6]
CHST14, a protein-coding gene, encodes for the enzyme carbohydrate sulfotransferase 14 (CHST14)/ dermatan 4-O-sulfotransferase (D4ST1). [5]
In humans, CHST14 is positioned on the long arm (q) of chromosome 15 at position 15.1, from base pair 40,470,961 to base pair 40,474,571. The CHST14 gene is 3,611 bases long, composed of 376 amino acids, and has a molecular mass of 42997 Da. [5]
CHST14 is implicated in fetal development of connective tissues throughout multiple organ systems. [7] It is also implicated in regulation of proliferation and neurogenesis of neural precursor cells. [8] It has been linked to inhibition of peripheral nerve regeneration in adults. [9]
Dermatan 4-O-sulfotransferase enzymatically transfers an active sulfate to position 4 of N-acetyl-D-galactosamine residues of dermatan sulfate, stabilizing this glycosaminoglycan. [10] Dermatan sulfate is essential to extracellular matrix formation and is found in extensively in skin, tendons, cartilage, and the aortic wall. [11] Mutation of CHST14 results in a deficiency of dermatan sulfate, which disrupts glycosaminoglycan constituents in fibroblasts and impairs collagen fibril linkage within collagen bundles. [10]
Mutation of CHST14 is associated with the Musculocontractural type of Ehlers–Danlos syndromes, recently specified as CHST14/D4ST1 deficiency. [7] Previously, this condition has been independently referred to as adducted thumb-clubfoot syndrome, [12] Ehlers-Danlos syndrome, Kosho type, [10] [13] musculocontractural Ehlers-Danlos syndrome, [14] and Ehlers-Danlos type VIB. [15] Currently, 40 patients from 27 families have been diagnosed with this autosomal recessive mutation. [16] CHST14/D4ST1 deficiency is the first identified human disease that directly impacts dermatan sulfate production. [16] " Hallmark features include congenital malformations (extensive craniofacial defects, skin elasticity, joint laxity, multiple contractures) combined with progressive fragility of affected structures, with increased incidence of bruising, recurrent joint dislocations, pneumothorax, spinal degeneration, and other deformities. [7]
Ehlers–Danlos syndromes (EDS) are a group of 13 genetic connective-tissue disorders in the current classification, with a 14th type discovered in 2018. Symptoms include loose joints, joint pain, stretchy velvety skin, and abnormal scar formation. These may be noticed at birth or in early childhood. Complications may include aortic dissection, joint dislocations, scoliosis, chronic pain, or early osteoarthritis.
Adducted thumb syndrome recessive form is a rare disease affecting multiple systems causing malformations of the palate, thumbs, and upper limbs. The name Christian syndrome derives from Joe. C. Christian, the first person to describe the condition. Inheritance is believed to be autosomal recessive, caused by mutation in the CHST14 gene.
Glycosaminoglycans (GAGs) or mucopolysaccharides are long, linear polysaccharides consisting of repeating disaccharide units. The repeating two-sugar unit consists of a uronic sugar and an amino sugar, except in the case of the sulfated glycosaminoglycan keratan, where, in place of the uronic sugar there is a galactose unit. GAGs are found in vertebrates, invertebrates and bacteria. Because GAGs are highly polar molecules and attract water; the body uses them as lubricants or shock absorbers.
Iduronate 2-sulfatase is a sulfatase enzyme associated with Hunter syndrome. It catalyses hydrolysis of the 2-sulfate groups of the L-iduronate 2-sulfate units of dermatan sulfate, heparan sulfate and heparin.
Type III Collagen is a homotrimer, or a protein composed of three identical peptide chains (monomers), each called an alpha 1 chain of type III collagen. Formally, the monomers are called collagen type III, alpha-1 chain and in humans are encoded by the COL3A1 gene. Type III collagen is one of the fibrillar collagens whose proteins have a long, inflexible, triple-helical domain.
Carbohydrate sulfotransferase 6 is an enzyme that in humans is encoded by the CHST6 gene.
Carbohydrate sulfotransferase 2 is an enzyme that in humans is encoded by the CHST2 gene.
Carbohydrate sulfotransferase 4 is an enzyme that in humans is encoded by the CHST4 gene.
Carbohydrate sulfotransferase 1 is an enzyme that in humans is encoded by the CHST1 gene.
Beta-1,4-galactosyltransferase 7 also known as galactosyltransferase I is an enzyme that in humans is encoded by the B4GALT7 gene. Galactosyltransferase I catalyzes the synthesis of the glycosaminoglycan-protein linkage in proteoglycans. Proteoglycans in turn are structural components of the extracellular matrix that is found between cells in connective tissues.
Carbohydrate sulfotransferase 15 is an enzyme that in humans is encoded by the CHST15 gene. It belongs to the N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase enzyme class.
Carbohydrate sulfotransferase 5 is an enzyme that in humans is encoded by the CHST5 gene.
Carbohydrate sulfotransferase 11 is an enzyme that in humans is encoded by the CHST11 gene.
Dermatan-sulfate epimerase is an enzyme that in humans is encoded by the DSE gene.
Carbohydrate sulfotransferase 12 is an enzyme that in humans is encoded by the CHST12 gene.
Carbohydrate sulfotransferase 7 is an enzyme that in humans is encoded by the CHST7 gene.
Carbohydrate sulfotransferase 10 is an enzyme that in humans is encoded by the CHST10 gene.
Carbohydrate sulfotransferases are sulfotransferase enzymes that transfer sulfate to carbohydrate groups in glycoproteins and glycolipids. Carbohydrates are used by cells for a wide range of functions from structural purposes to extracellular communication. Carbohydrates are suitable for such a wide variety of functions due to the diversity in structure generated from monosaccharide composition, glycosidic linkage positions, chain branching, and covalent modification. Possible covalent modifications include acetylation, methylation, phosphorylation, and sulfation. Sulfation, performed by carbohydrate sulfotransferases, generates carbohydrate sulfate esters. These sulfate esters are only located extracellularly, whether through excretion into the extracellular matrix (ECM) or by presentation on the cell surface. As extracellular compounds, sulfated carbohydrates are mediators of intercellular communication, cellular adhesion, and ECM maintenance.
N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase is an enzyme with systematic name 3'-phosphoadenylyl-sulfate:(dermatan)-4-O-sulfo-N-acetyl-D-galactosamine 6-O-sulfotransferase. This enzyme catalyses the following chemical reaction
Dermatan 4-sulfotransferase is an enzyme with systematic name 3'-phospho-5'-adenylyl sulfate:(dermatan)-N-acetyl-D-galactosamine 4-sulfotransferase. This enzyme catalyses the following chemical reaction
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