Secreted tyrosine-protein kinase that mediates phosphorylation of extracellular proteins and endogenous proteins in the secretory pathway, which is essential for patterning at organogenesis stages. Mediates phosphorylation of MMP1, MMP13, MMP14, MMP19 and ERP29 (PubMed:25171405). Probably plays a role in platelets: rapidly and quantitatively secreted from platelets in response to stimulation of platelet degranulation (PubMed:25171405). May also have serine/threonine protein kinase activity. Required for longitudinal bone growth through regulation of chondrocyte differentiation. May be indirectly involved in protein transport from the Golgi apparatus to the plasma membrane (By similarity).
Rhizomelic limb shortening with dysmorphic features
RLSDF
An autosomal recessive skeletal dysplasia characterized by rhizomelic shortening of limbs as well as variable dysmorphic features, including macrocephaly, short neck, micrognathia, mild proptosis, downslanting palpebral fissures, depressed or broad nasal bridge and long philtrum.
None
The disease is caused by variants affecting the gene represented in this entry.
N-glycosylated.
Phosphorylated on tyrosines; probably via autophosphorylation.
Belongs to the protein kinase superfamily.
Highly expressed in platelets.
SGK493, VLK, PKDCC, Extracellular tyrosine-protein kinase PKDCC, Protein kinase-like protein SgK493, Sugen kinase 493, Vertebrate lonesome kinase
Proteins
Immunology & Infectious Disease
54132Da
We found 3 products in 2 categories
ab131683