Gene: FAM20A

Alternate names for this Gene: AI1G|AIGFS|FP2747

Gene Summary: 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.

Gene is located in Chromosome: 17

Location in Chromosome : 17q24.2

Description of this Gene: FAM20A golgi associated secretory pathway pseudokinase

Type of Gene: protein-coding

Gene: PRKAR1A

Alternate names for this Gene: ACRDYS1|ADOHR|CAR|CNC|CNC1|PKR1|PPNAD1|PRKAR1|TSE1

Gene Summary: cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. This gene encodes one of the regulatory subunits. This protein was found to be a tissue-specific extinguisher that down-regulates the expression of seven liver genes in hepatoma x fibroblast hybrids. Mutations in this gene cause Carney complex (CNC). This gene can fuse to the RET protooncogene by gene rearrangement and form the thyroid tumor-specific chimeric oncogene known as PTC2. A nonconventional nuclear localization sequence (NLS) has been found for this protein which suggests a role in DNA replication via the protein serving as a nuclear transport protein for the second subunit of the Replication Factor C (RFC40). Several alternatively spliced transcript variants encoding two different isoforms have been observed.

Gene is located in Chromosome: 17

Location in Chromosome : 17q24.2

Description of this Gene: protein kinase cAMP-dependent type I regulatory subunit alpha

Type of Gene: protein-coding

rs1555815121 in FAM20A;PRKAR1A gene and ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE PMID 23043190 2012 PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance.

PMID 22464252 2012 Exome sequencing identifies PDE4D mutations in acrodysostosis.

PMID 23425300 2013 Novel mutations of the PRKAR1A gene in patients with acrodysostosis.

PMID 22723333 2012 PRKAR1A mutation affecting cAMP-mediated G protein-coupled receptor signaling in a patient with acrodysostosis and hormone resistance.

PMID 26405036 2015 Functional Characterization of PRKAR1A Mutations Reveals a Unique Molecular Mechanism Causing Acrodysostosis but Multiple Mechanisms Causing Carney Complex.

PMID 22464250 2012 Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis.

PMID 21651393 2011 Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance.

rs1555815121 in FAM20A;PRKAR1A gene and Cone-shaped epiphysis PMID 22464252 2012 Exome sequencing identifies PDE4D mutations in acrodysostosis.

PMID 23425300 2013 Novel mutations of the PRKAR1A gene in patients with acrodysostosis.

PMID 23043190 2012 PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance.

rs2302234 in FAM20A;PRKAR1A gene and Lymphocyte Count measurement PMID 22286170 2012 The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes.

rs1555815121 in FAM20A;PRKAR1A gene and Short phalanx of finger PMID 22464252 2012 Exome sequencing identifies PDE4D mutations in acrodysostosis.

PMID 23043190 2012 PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance.

PMID 23425300 2013 Novel mutations of the PRKAR1A gene in patients with acrodysostosis.