| FAM20A | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | FAM20A , AI1G, AIGFS, FP2747, family with sequence similarity 20 member A, golgi associated secretory pathway pseudokinase, FAM20A golgi associated secretory pathway pseudokinase | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 611062 MGI: 2388266 HomoloGene: 9719 GeneCards: FAM20A | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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FAM20A is a protein that in humans is encoded by the FAM20A gene. [5]
FAM20A belongs to an evolutionarily conserved family of secreted proteins expressed in many tissues. This locus encodes a protein that is likely secreted and may function in hematopoiesis. [6] A mutation at this locus has been associated with amelogenesis imperfecta and gingival hyperplasia syndrome. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011]
A mutation in FAM20A was reported to be associated with amelogenesis imperfecta, an inherited enamel defect, and gingival hyperplasia syndrome. [7]
Human mutations in FAM20A were also reported to cause Enamel-Renal Syndrome, an autosomal recessive disorder characterized by severe enamel hypoplasia, failed tooth eruption, intrapulpal calcifications, enlarged gingiva, and nephrocalcinosis. [8]
Enamelin is an enamel matrix protein (EMPs), that in humans is encoded by the ENAM gene. It is part of the non-amelogenins, which comprise 10% of the total enamel matrix proteins. It is one of the key proteins thought to be involved in amelogenesis. The formation of enamel's intricate architecture is thought to be rigorously controlled in ameloblasts through interactions of various organic matrix protein molecules that include: enamelin, amelogenin, ameloblastin, tuftelin, dentine sialophosphoprotein, and a variety of enzymes. Enamelin is the largest protein (~168kDa) in the enamel matrix of developing teeth and is the least abundant of total enamel matrix proteins. It is present predominantly at the growing enamel surface.
Ameloblastin is an enamel matrix protein that in humans is encoded by the AMBN gene.
Treacle protein is a protein that in humans is encoded by the TCOF1 gene.
Interferon regulatory factor 6 also known as IRF6 is a protein that in humans is encoded by the IRF6 gene.
Amelogenin, Y isoform is a protein that in humans is encoded by the AMELY gene. AMELY is located on the Y chromosome and encodes a form of amelogenin. Amelogenin is an extracellular matrix protein involved in biomineralization during tooth enamel development.
Amelogenin, X isoform is a protein that in humans is encoded by the AMELX gene. AMELX is located on the X chromosome and encodes a set of isoforms of amelogenin by alternative splicing. Amelogenin is an extracellular matrix protein involved in the process of amelogenesis, the formation of enamel on teeth.
Inositol polyphosphate 5-phosphatase OCRL-1, also known as Lowe oculocerebrorenal syndrome protein, is an enzyme encoded by the OCRL gene located on the X chromosome in humans.
Eyes absent homolog 1 is a protein that in humans is encoded by the EYA1 gene.
Homeobox protein DLX-3 is a protein that in humans is encoded by the DLX3 gene.
McKusick–Kaufman/Bardet–Biedl syndromes putative chaperonin is a protein that in humans is encoded by the MKKS gene.
Bardet–Biedl syndrome 1 protein is a protein that in humans is encoded by the BBS1 gene. BBS1 is part of the BBSome complex, which required for ciliogenesis. Mutations in this gene have been observed in patients with the major form of Bardet–Biedl syndrome.
Bardet–Biedl syndrome 2 protein is a protein that in humans is encoded by the BBS2 gene.
Nephrocystin-4 is a protein that in humans is encoded by the NPHP4 gene.
Matrix metalloproteinase-20 (MMP-20) also known as enamel metalloproteinase or enamelysin is an enzyme that in humans is encoded by the MMP20 gene.
Family with sequence similarity 20, member C also known as FAM20C or DMP4 is a protein which in humans is encoded by the FAM20C gene. Fam20C, a Golgi localized protein kinase, is a serine kinase that phosphorylates both casein and other highly acidic proteins and members of the small integrin-binding ligand, the N-linked glycoproteins (SIBLING) family at the target motif SerXGlu.
Transmembrane protein 216 is a protein in humans that is encoded by the TMEM216 gene.
FAM83H is a protein, which in humans is encoded by the FAM83H gene. The protein is also known as uncharacterized protein FAM83H. FAM83H is targeted for the nucleus. It is predicted to play a role in the structural development and calcification of tooth enamel.
WD repeat-containing protein 72 is a protein that in humans is encoded by the WDR72 gene. WDR72 contains 7 WD40 repeats, which are predicted to form the blades of a 7 beta propeller structure.
Amelogenesis imperfecta (AI) is a congenital disorder which presents with a rare abnormal formation of the enamel or external layer of the crown of teeth, unrelated to any systemic or generalized conditions. Enamel is composed mostly of mineral, that is formed and regulated by the proteins in it. Amelogenesis imperfecta is due to the malfunction of the proteins in the enamel as a result of abnormal enamel formation via amelogenesis.
Sodium/potassium/calcium exchanger 4 also known as solute carrier family 24 member 4 is a protein that in humans is encoded by the SLC24A4 gene.
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