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单词 galns
释义 DictionarySeegas

GALNS


GALNS

A gene on chromosome 16q24.3 that encodes N-acetylgalactosamine-6-sulfatase, a lysosomal exohydrolase required for the degradation of glycosaminoglycans, keratan sulfate and chondroitin 6-sulfate.
Molecular pathology
Defects of GALNS cause Morquio A syndrome, a lysosomal storage disease.
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