The sulf2 gene encodes an extracellular heparan sulfate endosulfatase enzyme that remodels the extracellular matrix by removing 6-O-sulfate groups from heparan sulfate proteoglycans. This enzymatic act...[+]

The sulf2 gene encodes an extracellular heparan sulfate endosulfatase enzyme that remodels the extracellular matrix by removing 6-O-sulfate groups from heparan sulfate proteoglycans. This enzymatic activity modulates growth factor signaling pathways including FGF and BMP during embryonic development, influencing processes such as neural crest cell migration, cranial ganglia formation, inner ear development, eye morphogenesis, and patterning of the branchial arches. The protein is localized to the extracellular matrix and cell surfaces. [-]

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD