GALNS
GALNS (galactosamine (N-acetyl)-6-sulfatase, also known as GAS, GALNAC6S and GalN6S) is a lysosomal sulfatase that removes sulfate groups from the glycosaminoglycans keratan sulfate and chondroitin-6-sulfate. Deficiency of the enzyme causes the lysosomal storage disorder Morquio A syndrome. Browse Assay Genie's current range of GALNS research reagents below, or read on for the biology behind the target.
GALNS is a lysosomal enzyme that hydrolyses sulfate groups from glycosaminoglycans (GAGs), specifically keratan sulfate (KS) and chondroitin-6-sulfate (C6S). NCBI Gene describes it as a lysosomal exohydrolase required for the degradation of keratan sulfate and chondroitin 6-sulfate. Because it acts within the lysosome, GALNS forms part of the pathway that breaks down these GAGs.
The human GALNS gene encodes N-acetylgalactosamine-6-sulfatase, which UniProt classifies as a member of the sulfatase family; HGNC places it in the sulfatases gene group. The enzyme carries the EC number 3.1.6.4. Orthologues of the gene are named Galns in both mouse and rat, which makes rodent models a common route for studying the enzyme. Researchers working on the GALNS gene or the GALNS protein will also meet the aliases GAS, GALNAC6S and GalN6S, and the previous HGNC name galactosamine (N-acetyl)-6-sulfate sulfatase.
GALNS is of particular interest in disease research. Sequence alterations in the gene, including point, missense and nonsense mutations and those that affect splicing, result in a deficiency of the enzyme. According to NCBI Gene, this deficiency leads to Morquio A syndrome, a lysosomal storage disorder. The enzyme is therefore a reference point for work on GAG catabolism, lysosomal function and the biology of sulfatase deficiencies.
GALNS deficiency leads to Morquio A syndrome, a lysosomal storage disorder, making the enzyme central to research on this disease.
GALNS is required for the degradation of keratan sulfate and chondroitin 6-sulfate, so it is a key enzyme for studying GAG breakdown.
As a member of the sulfatase family that hydrolyses sulfate groups, GALNS is relevant to comparative studies of sulfatase function.
Point, missense, nonsense and splicing mutations in GALNS cause enzyme deficiency, supporting genotype and functional studies of the gene.
GALNS is a lysosomal exohydrolase that hydrolyses sulfate groups from the glycosaminoglycans keratan sulfate and chondroitin-6-sulfate. It is required for the degradation of these GAGs within the lysosome, and its deficiency leads to the lysosomal storage disorder Morquio A syndrome.
GALNS stands for galactosamine (N-acetyl)-6-sulfatase. The protein is also called N-acetylgalactosamine-6-sulfatase, and aliases include GAS, GALNAC6S and GalN6S. An earlier HGNC name was galactosamine (N-acetyl)-6-sulfate sulfatase. Its EC number is 3.1.6.4.
Yes. Mutations that disrupt GALNS cause enzyme deficiency and lead to Morquio A syndrome. The gene has orthologues named Galns in mouse and rat. Check the datasheet of any product for its validated reactivity.
Other sulfatases, lysosomal enzymes and glycosaminoglycan-metabolism targets with products at Assay Genie.
Gene and protein annotations from HGNC, NCBI Gene and UniProt P34059; product specifications from Assay Genie datasheets.