Anti-Iduronate 2 sulfatase antibody (ab70025)

Function

Required for the lysosomal degradation of heparan sulfate and dermatan sulfate.

Tissue specificity

Liver, kidney, lung, and placenta.

Involvement in disease

Defects in IDS are the cause of mucopolysaccharidosis type 2 (MPS2) [MIM:309900]; also known as Hunter syndrome. MPS2 is 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 mental retardation 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 mental retardation.

Sequence similarities

Belongs to the sulfatase family.

Post-translational
modifications

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.

Cellular localization

Lysosome.

Alternative names

Database links