The gene cemip encodes a type ii transmembrane protein and hyaluronidase, localized to the plasma membrane and extracellular matrix. it functions as a glycosidase that binds and hydrolyzes hyaluronan. ...[+]

The gene cemip encodes a type ii transmembrane protein and hyaluronidase, localized to the plasma membrane and extracellular matrix. it functions as a glycosidase that binds and hydrolyzes hyaluronan. this protein is expressed in the neural crest, craniofacial cartilages, and otic vesicle, where its enzymatic activity facilitates hyaluronan degradation to promote proper craniofacial morphogenesis. [-]

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