Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Extracellular serine/threonine protein kinase FAM20C

The FAMC20 gene encodes a secreted protein kinase that plays an important role in phosphate metabolism. Mutations cause autosomal recessive Raine syndrome.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Raine syndrome
FAM20C

References:

1.

Al-Gazali LI et al. (2003) Further delineation of Raine syndrome.

external link
2.

Takeyari S et al. (2014) Hypophosphatemic osteomalacia and bone sclerosis caused by a novel homozygous mutation of the FAM20C gene in an elderly man with a mild variant of Raine syndrome.

external link
3.

Faundes V et al. (2014) Raine syndrome: an overview.

external link
4.

Acevedo AC et al. (2015) Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations.

external link
5.

Liu P et al. (2014) Inactivation of Fam20C in cells expressing type I collagen causes periodontal disease in mice.

external link
6.

Kinoshita Y et al. (2014) Functional analysis of mutant FAM20C in Raine syndrome with FGF23-related hypophosphatemia.

external link
7.

Wang X et al. (2015) The specific role of FAM20C in dentinogenesis.

external link
8.

Vogel P et al. (2012) Amelogenesis imperfecta and other biomineralization defects in Fam20a and Fam20c null mice.

external link
9.

Hao J et al. (2007) Dentin matrix protein 4, a novel secretory calcium-binding protein that modulates odontoblast differentiation.

external link
10.

Nalbant D et al. (2005) FAM20: an evolutionarily conserved family of secreted proteins expressed in hematopoietic cells.

external link
11.

Tagliabracci VS et al. (2012) Secreted kinase phosphorylates extracellular proteins that regulate biomineralization.

external link
12.

Fradin M et al. (2011) Osteosclerotic bone dysplasia in siblings with a Fam20C mutation.

external link
13.

Simpson MA et al. (2009) Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia.

external link
14.

Simpson MA et al. (2007) Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.

external link
15.

Hülskamp G et al. (2003) Raine syndrome: report of a family with three affected sibs and further delineation of the syndrome.

external link
16.

Kingston HM et al. (1991) A new lethal sclerosing bone dysplasia.

external link
17.

NCBI article

NCBI 56975 external link
18.

OMIM.ORG article

Omim 611061 external link
19.

Orphanet article

Orphanet ID 138509 external link
20.

Wikipedia article

Wikipedia EN (FAM20C) external link
Update: Aug. 14, 2020
Copyright © 2005-2020 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues