靶标:
GALNS
产品别名:
GALNAC6S; GAS; GalN6S; MPS4A; GALNS; galactosamine (N-acetyl)-6-sulfatase; galactosamine (N-acetyl)-6-sulfatase; N-acetylgalactosamine-6-sulfatase; N-acetylgalactosamine-6-sulfate sulfatase; chondroitinase; chondroitinsulfatase; galNAc6S sulfatase; galactosamine (N-acetyl)-6-sulfate sulfatase; galactose-6-sulfate sulfatase; N-乙酰硫酸酯酶(GALNS); 硫酸软骨素裂解酶;
背景信息:
N-acetylgalactosamine-6-sulfatase is an enzyme that, in humans, is encoded by the GALNS gene. This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder.