background:
The FAM20 proteins are a family of secreted proteins that regulate differentiation and function of hematopoietic and other tissues. FAM20C, also known as DMP4 (Dentin matrix protein 4), is a 570 amino acid secreted protein that binds calcium and may play a role in dentin mineralization. Defects in the gene encoding FAM20C are the cause of Raine syndrome (Lethal osteosclerotic bone dysplasia), an autosomal recessive osteosclerotic bone dysplasia, that is characterized by generalized osteosclerosis, microencephaly and craniofacial dysplasia. Usually, affected individuals survive only days or weeks. The mutations of the FAM20C gene include four nonsynomous base changes and four splice-site changes that have a detrimental affect on splicing.
Function:
Calcium-binding protein which may play a role in dentin mineralization.
Subcellular Location:
Secreted.
Tissue Specificity:
Widely expressed.
DISEASE:
Defects in FAM20C are the cause of Raine syndrome (RNS) [MIM:259775]. RNS is an autosomal recessive osteosclerotic bone dysplasia with neonatal lethal outcome. Clinical features include generalized osteosclerosis, craniofacial dysplasia and microcephaly.
Similarity:
Belongs to the FAM20 family.
Database links:
UniProtKB/Swiss-Prot: Q8IXL6.2
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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