IDS
Function
Lysosomal enzyme involved in the degradation pathway of dermatan sulfate and heparan sulfate.
Involvement in disease
Mucopolysaccharidosis 2
MPS2
An X-linked lysosomal storage disease characterized by intracellular accumulation of heparan sulfate and dermatan sulfate and their excretion in urine. Most children with MPS2 have a severe form with early somatic abnormalities including skeletal deformities, hepatosplenomegaly, and progressive cardiopulmonary deterioration. A prominent feature is neurological damage that presents as developmental delay and hyperactivity but progresses to intellectual disability and dementia. They die before 15 years of age, usually as a result of obstructive airway disease or cardiac failure. In contrast, those with a mild form of MPS2 may survive into adulthood, with attenuated somatic complications and often without intellectual disability.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Synthesized as a 75-kDa precursor form in the endoplasmic reticulum (ER), and then processed by proteolytic cleavage through various intermediates to yield a 55-kDa mature form, with the release of an 18 kDa polypeptide.
The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity.
Sequence Similarities
Belongs to the sulfatase family.
Tissue Specificity
Liver, kidney, lung, and placenta.
Cellular localization
- Lysosome
Alternative names
SIDS, IDS, Iduronate 2-sulfatase, Alpha-L-iduronate sulfate sulfatase, Idursulfase