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. [4]
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. [4]
Mutations in SLC24A4 cause amelogenesis imperfecta. [5] [6] [7]
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.
Sodium/potassium/calcium exchanger 5 (NCKX5), also known as solute carrier family 24 member 5 (SLC24A5), is a protein that in humans is encoded by the SLC24A5 gene that has a major influence on natural skin colour variation. The NCKX5 protein is a member of the potassium-dependent sodium/calcium exchanger family. Sequence variation in the SLC24A5 gene, particularly a non-synonymous SNP changing the amino acid at position 111 in NCKX5 from alanine to threonine, has been associated with differences in skin pigmentation.
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.
Potassium-dependent sodium-calcium exchanger also known as solute carrier family 24 (SLC24) is a type of sodium-calcium exchanger that requires potassium to function.
Sodium-dependent phosphate transport protein 2B (NaPi2b) is a protein that in humans is encoded by the SLC34A2 gene.
Sodium-coupled monocarboxylate transporter 1 is a protein that in humans is encoded by the SLC5A8 gene.
Solute carrier family 13 member 3 also called sodium-dependent dicarboxylate transporter (NaDC3) is a protein that in humans is encoded by the SLC13A3 gene.
Solute carrier family 13 member 2 is a protein that is encoded in humans by the SLC13A2 gene.
Solute carrier family 6, member 18 also known as SLC6A18 is a protein which in humans is encoded by the SLC6A18 gene.
Sodium/hydrogen exchanger 10, also known as solute carrier family 9 member 10, is a protein that in humans is encoded by the SLC9A10 gene.
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.
Solute carrier family 17, member 3 is a protein that in humans is encoded by the SLC17A3 gene.
Acetyl-coenzyme A transporter 1 also known as solute carrier family 33 member 1 (SLC33A1) is a protein that in humans is encoded by the SLC33A1 gene.
Solute carrier family 13 (sodium-dependent citrate transporter), member 5 also known as the Na+/citrate cotransporter or mIndy is a protein that in humans is encoded by the SLC13A5 gene. It is the mammalian homolog of the fly Indy gene.
Solute carrier family 8, member B1 is a protein that in humans is encoded by the SLC8B1 gene.
Calcium-binding mitochondrial carrier protein SCaMC-1 is a protein that in humans is encoded by the SLC25A24 gene.
Glucose-6-phosphate exchanger SLC37A2 is a protein that in humans is encoded by the SLC37A2 gene.
Sodium-dependent phosphate transport protein 2A, also known as Na+-Pi cotransporter 2a (NaPi-2a), is a protein in humans that is encoded by the SLC34A1 gene. This gene encodes a member of the type II sodium-phosphate cotransporter family.
Solute carrier family 25 member 22 is a protein that in humans is encoded by the SLC25A22 gene. This gene encodes a mitochondrial glutamate carrier. Mutations in this gene are associated with early infantile epileptic encephalopathy. Expression of this gene is increased in colorectal tumor cells.