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Target intelligence / Profile preview
Iduronate 2-sulfatase pseudogene 1 (IDSP1)
- Target
- IDSP1
- Molecular classification
- Pseudogene
01
Overview
Iduronate 2-sulfatase pseudogene 1 (IDSP1, also called IDS2) is a non-coding pseudogene found on the X chromosome near the functional *IDS* gene. Unlike *IDS*, which encodes the lysosomal enzyme iduronate 2-sulfatase (I2S) responsible for glycosaminoglycan catabolism, IDSP1/IDS2 lacks protein-coding function. Complex recombination events between *IDS* and its pseudogene (IDSP1/IDS2) can cause pathogenic deletions or rearrangements of *IDS*, leading to Hunter syndrome (Mucopolysaccharidosis type II). The pseudogene itself is not a therapeutic target, biomarker, or functional protein, but its presence has important implications for the genetics and diagnosis of MPS II[3][6][7].
- Other names
- IDS2Iduronate-2-sulfatase pseudogeneIduronate 2-sulfatase pseudogene 1
02
Mechanism of action
None (not a drug target)
03
Biological functions
None (pseudogenes, by definition, lack normal protein-coding function)
04
Disease associations
Can participate in gene conversion or recombination events with the functional *IDS* gene, which may cause pathogenic deletions or rearrangements leading to Mucopolysaccharidosis type II (Hunter syndrome)
05
Safety considerations
None directly applicable, but if recombination involving IDSP1 and IDS causes large deletions or gene alterations, it can complicate genetic diagnostics for Hunter syndrome
06
Interacting drugs
None (the pseudogene itself is not targeted by drugs; therapies target enzyme deficiencies caused by mutation or deletion of the active *IDS* gene)
07
Biomarkers
None (IDSP1 is not used as a biomarker on its own)
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