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This locus encodes a protein that is likely secreted and may function in hematopoiesis.
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three patients with homozygous or compound heterozygous mutations in FAM20A and findings that extend the phenotypic spectrum of this disorder, showing that protein truncation is associated with greater clinical severity.
Fam20A potentiates Fam20C (show FAM20C Proteins) kinase activity and promotes the phosphorylation of enamel matrix proteins in vitro.
our findings support the suggestion that enamel-renal and AIGFSs are actually the same entity with different manifestations, associated with FAM20A mutations.
the first duplication in FAM20A and the fifth independent mutation associated with gingival hyperplasia and dental anomalies, is reported.
study identified 3 novel FAM20A mutations that caused autosomal-recessive amelogenesis imperfecta with delayed and arrested tooth eruption; conclude that FAM20A is likely a secretory pathway kinase and that loss-of-function mutations cause pathology where its phosphorylations are necessary for normal development or homeostasis
Data indicate that autosomal recessive FAM20A mutations causes nephrocalcinosis and amelogenesis imperfecta.
we conclude that FAM20A, which has a kinase homology domain and localizes to the Golgi, is a putative Golgi kinase that plays a significant role in the regulation of biomineralization processes.
Myocardial infarction is distinguished by the up-regulation of SOCS3 (show SOCS3 Proteins) and FAM20A genes within first days in the vast majority of patients.
Three homozygous mutations in three families, and a compound heterozygous mutation in one family with hypoplastic amelogenesis imperfecta have been identified in FAM20A.
A homozygous nonsense mutation in exon 2 of FAM20A underlies Amelogenesis imperfecta (AI) -- disorders of biomineralization resulting from failure of normal enamel formation.
Fam20a null mice develop amelogenesis imperfecta and ectopic mineralization of muscular arteries and the gene is highly expressed in ameloblasts and the parathyroid gland
possible link between Fam20a mutation and growth disorder
This locus encodes a protein that is likely secreted and may function in hematopoiesis. A mutation at this locus has been associated with amelogenesis imperfecta and gingival hyperplasia syndrome. Alternatively spliced transcript variants have been identified.
, ortholog of human family with sequence similarity 20, member A FAM20A