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Protein Page:
FAM20C (human)

FAM20C an atypical serine protein kinase that localizes within the Golgi apparatus and is secreted. Distantly related to the Drosophila Golgi-localized kinase Four-jointed. Phosphorylates secretory proteins including the caseins and members of the small integrin-binding ligand, N-linked glycoprotein (SIBLING) protein family, which modulate biomineralization. Colocalizes with the Golgi resident protein GM130. Preferentially phosphorylates its targets within the S-x-E/pS motif. Requires Mn2+ as an alternative to Mg2+ as the activating cation. Defects in FAM20C are the cause of Raine syndrome (RNS). RNS is an autosomal recessive osteosclerotic bone dysplasia with neonatal lethal outcome. Clinical features include generalized osteosclerosis, craniofacial dysplasia and microcephaly. Two isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: EC; Protein kinase, Ser/Thr (non-receptor); Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 7p22.3
Cellular Component: extracellular space; Golgi apparatus
Molecular Function: manganese ion binding; protein binding; protein serine/threonine kinase activity
Biological Process: biomineral formation; protein amino acid phosphorylation
Disease: Raine Syndrome
Reference #:  Q8IXL6 (UniProtKB)
Alt. Names/Synonyms: Dentin matrix protein 4; DKFZp547C074; DMP-4; DMP4; FAM20C; family with sequence similarity 20, member C; Protein FAM20C; RNS
Gene Symbols: FAM20C
Molecular weight: 66,234 Da
Basal Isoelectric point: 7.65  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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