KEGG VARIANT: 3423v1

VARIANT: 3423v1

Entry

3423v1                      Variant

Name

IDS deficiency

Type

Loss of function

Gene

IDS iduronate 2-sulfatase isoform a preproprotein [KO:K01136]

Organism

hsa_var Human gene variants (Homo sapiens)

Variation

mutations
OmimVar: 300823

Network

nt06012 Glycosaminoglycan degradation

Disease

Mucopolysaccharidosis type II

Drug target

Idursulfase:

D04499<JP/US>

Idursulfase beta:

Pabinafusp alfa:

Tividenofusp alfa:

Verenafusp alfa:

Reference

Authors

Flomen RH, Green PM, Bentley DR, Giannelli F, Green EP

Title

Detection of point mutations and a gross deletion in six Hunter syndrome patients.

Journal

Genomics 13:543-50 (1992)
DOI:10.1016/0888-7543(92)90123-A

Reference

Authors

Sukegawa K, Tomatsu S, Tamai K, Ikeda M, Sasaki T, Masue M, Fukuda S, Yamada Y, Orii T

Title

Intermediate form of mucopolysaccharidosis type II (Hunter disease): a C1327 to T substitution in the iduronate sulfatase gene.

Journal

Biochem Biophys Res Commun 183:809-13 (1992)
DOI:10.1016/0006-291X(92)90555-Y

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