This old version of Proteopedia is provided for student assignments while the new version is undergoing repairs. Content and edits done in this old version of Proteopedia after March 1, 2026 will eventually be lost when it is retired in about June of 2026.
Apply for new accounts at the new Proteopedia. Your logins will work in both the old and new versions.
1fsu
From Proteopedia
(Difference between revisions)
| Line 11: | Line 11: | ||
== Disease == | == Disease == | ||
[[http://www.uniprot.org/uniprot/ARSB_HUMAN ARSB_HUMAN]] Defects in ARSB are the cause of mucopolysaccharidosis type 6 (MPS6) [MIM:[http://omim.org/entry/253200 253200]]; also known as Maroteaux-Lamy syndrome. MPS6 is an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of dermatan sulfate. Clinical features can include abnormal growth, short stature, stiff joints, skeletal malformations, corneal clouding, hepatosplenomegaly, and cardiac abnormalities. A wide variation in clinical severity is observed.<ref>PMID:1718978</ref> <ref>PMID:1550123</ref> <ref>PMID:8116615</ref> <ref>PMID:8125475</ref> <ref>PMID:8541342</ref> <ref>PMID:8651289</ref> <ref>PMID:10036316</ref> <ref>PMID:10738004</ref> <ref>PMID:11802522</ref> <ref>PMID:14974081</ref> Arylsulfatase B activity is defective in multiple sulfatase deficiency (MSD) [MIM:[http://omim.org/entry/272200 272200]]. A clinically and biochemically heterogeneous disorder caused by the simultaneous impairment of all sulfatases, due to defective post-translational modification and activation. It combines features of individual sulfatase deficiencies such as metachromatic leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and developmental delay. Note=Arylsulfatase B activity is impaired in multiple sulfatase deficiency due to mutations in SUMF1. SUMF1 mutations result in defective post-translational modification of ARSB at residue Cys-91 that is not converted to 3-oxoalanine.<ref>PMID:7628016</ref> <ref>PMID:15146462</ref> | [[http://www.uniprot.org/uniprot/ARSB_HUMAN ARSB_HUMAN]] Defects in ARSB are the cause of mucopolysaccharidosis type 6 (MPS6) [MIM:[http://omim.org/entry/253200 253200]]; also known as Maroteaux-Lamy syndrome. MPS6 is an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of dermatan sulfate. Clinical features can include abnormal growth, short stature, stiff joints, skeletal malformations, corneal clouding, hepatosplenomegaly, and cardiac abnormalities. A wide variation in clinical severity is observed.<ref>PMID:1718978</ref> <ref>PMID:1550123</ref> <ref>PMID:8116615</ref> <ref>PMID:8125475</ref> <ref>PMID:8541342</ref> <ref>PMID:8651289</ref> <ref>PMID:10036316</ref> <ref>PMID:10738004</ref> <ref>PMID:11802522</ref> <ref>PMID:14974081</ref> Arylsulfatase B activity is defective in multiple sulfatase deficiency (MSD) [MIM:[http://omim.org/entry/272200 272200]]. A clinically and biochemically heterogeneous disorder caused by the simultaneous impairment of all sulfatases, due to defective post-translational modification and activation. It combines features of individual sulfatase deficiencies such as metachromatic leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and developmental delay. Note=Arylsulfatase B activity is impaired in multiple sulfatase deficiency due to mutations in SUMF1. SUMF1 mutations result in defective post-translational modification of ARSB at residue Cys-91 that is not converted to 3-oxoalanine.<ref>PMID:7628016</ref> <ref>PMID:15146462</ref> | ||
| - | == Function == | ||
| - | |||
== Evolutionary Conservation == | == Evolutionary Conservation == | ||
[[Image:Consurf_key_small.gif|200px|right]] | [[Image:Consurf_key_small.gif|200px|right]] | ||
Revision as of 15:02, 24 December 2014
4-SULFATASE (HUMAN)
| |||||||||||
