X-linked ichthyosis is a skin condition caused by the hereditary deficiency of the steroid sulfatase (STS) enzyme that affects 1 in 2000 to 1 in 6000 males. XLI manifests with dry, scaly skin and is due to deletions or mutations in the STS gene. XLI can also occur in the context of larger deletions causing contiguous gene syndromes. Treatment is largely aimed at alleviating the skin symptoms. The term is from the Ancient Greek 'ichthys' meaning 'fish'.
Arylsulfatase A is an enzyme that breaks down sulfatides, namely cerebroside 3-sulfate into cerebroside and sulfate. In humans, arylsulfatase A is encoded by the ARSA gene.
Steroid sulfatase (STS), or steryl-sulfatase, formerly known as arylsulfatase C, is a sulfatase enzyme involved in the metabolism of steroids. It is encoded by the STS gene.
Sulfatases EC 3.1.6.- are enzymes of the esterase class that catalyze the hydrolysis of sulfate esters. These may be found on a range of substrates, including steroids, carbohydrates and proteins. Sulfate esters may be formed from various alcohols and amines. In the latter case the resultant N-sulfates can also be termed sulfamates.
Arylsulfatase B is an enzyme associated with mucopolysaccharidosis VI.
Arylsulfatase (EC 3.1.6.1, sulfatase, nitrocatechol sulfatase, phenolsulfatase, phenylsulfatase, p-nitrophenyl sulfatase, arylsulfohydrolase, 4-methylumbelliferyl sulfatase, estrogen sulfatase) is a type of sulfatase enzyme with systematic name aryl-sulfate sulfohydrolase. This enzyme catalyses the following chemical reaction
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.
N-acetylgalactosamine-4-sulfatase is an enzyme with systematic name N-acetyl-D-galactosamine-4-sulfate 4-sulfohydrolase. It catalyses the following reaction:
N-acetylgalactosamine-6-sulfatase is an enzyme that, in humans, is encoded by the GALNS gene.
N-acetylglucosamine-6-sulfatase (EC 3.1.6.14, glucosamine (N-acetyl)-6-sulfatase, systematic name N-acetyl-D-glucosamine-6-sulfate 6-sulfohydrolase) is an enzyme that in humans is encoded by the GNS gene. It is deficient in Sanfilippo Syndrome type IIId. It catalyses the hydrolysis of the 6-sulfate groups of the N-acetyl-D-glucosamine 6-sulfate units of heparan sulfate and keratan sulfate
In enzymology, a N-sulfoglucosamine sulfohydrolase (EC 3.10.1.1), otherwise known as SGSH, is an enzyme that catalyzes the chemical reaction
In enzymology, a phosphoadenylylsulfatase (EC 3.6.2.2) is an enzyme that catalyzes the chemical reaction
The enzyme chondro-4-sulfatase (EC 3.1.6.9) catalyzes the reaction
In enzymology, a glucuronate-2-sulfatase is an enzyme that catalyzes the chemical reaction of cleaving off the 2-sulfate groups of the 2-O-sulfo-D-glucuronate residues of chondroitin sulfate, heparin and heparitin sulfate.
The enzyme N-acetylgalactosamine-6-sulfatase catalyzes the chemical reaction of cleaving off the 6-sulfate groups of the N-acetyl-D-galactosamine 6-sulfate units of the macromolecule chondroitin sulfate and, similarly, of the D-galactose 6-sulfate units of the macromolecule keratan sulfate.
In enzymology, a galactose-6-sulfurylase is an enzyme that catalyzes the chemical reaction
X-linked recessive chondrodysplasia punctata is a type of chondrodysplasia punctata that can involve the skin, hair, and cause short stature with skeletal abnormalities, cataracts, and deafness.
Arylsulfatase E, also known as ARSE, is an enzyme that, in humans, is encoded by the ARSE gene.
Formylglycine-generating enzyme (FGE), located at 3p26.1 in humans, is the name for an enzyme present in the endoplasmic reticulum that catalyzes the conversion of cysteine to formylglycine (fGly). There are two main classes of FGE, aerobic and anaerobic. FGE activates sulfatases, which are essential for the degradation of sulfate esters. The catalytic activity of sulfatases is dependent upon a formylglycine residue in the active site.
Bimal Kumar Bachhawat was an Indian neurochemist and glycobiologist, known for his discovery of HMG-CoA lyase, an intermediate in the mevalonate and ketogenesis pathway, and for the elucidation of the molecular cause of metachromatic leukodystrophy, a hereditary disease of the brain His studies on sugar-bearing liposomes led to its use as a carrier for in situ delivery of drugs and hormones to diseased organs and he pioneered the therapy of systemic fungal infections using liposomal formulations. He was a recipient of several awards including the Shanti Swarup Bhatnagar Award, the highest Indian honor in science and technology and an elected fellow of three major Indian science academies. The Government of India awarded him the third highest civilian honour of the Padma Bhushan, in 1990, for his contributions to science.
