81 research outputs found
SLC24A5 (solute carrier family 24 (sodium/potassium/calcium exchanger), member 5)
SLC24A5 is a member of the potassium-dependent sodium/calcium exchanger family and encodes an intracellular membrane protein. Sequence variations in this gene have been associated with differences in skin pigmentation, and the defective protein leads to Oculocutaneous albinism type VI, OCA6
LMDRA (leucine rich melanocyte differentiation associated)
C10orf11 encodes a leucine-rich repeat protein having a role in melanocyte differentiation. Mutations in this gene have been associated with autosomal recessive oculocutaneous albinism 7 (OCAVII)
TYRP1 (tyrosinase-related protein 1)
TYRP1 gene, having a chromosomal location of 9p23, encodes a melanosomal enzyme belonging to the tyrosinase family. TYRP1 catalyses oxidation of 5,6-dihydroxyindole-2-carboxylic acid (DHICA) into indole-5,6-quinone-2-carboxylic acid. TYRP1 is also thought to play a role in stabilizing tyrosinase and modulates its catalytic activity, in maintenance of melanosome structure, affecting melanocyte proliferation and melanocyte cell death. Defects in this gene cause oculocutaneous albinism type III; OCA III (also known as rufous oculocutaneous albinism)
SLC45A2 (solute carrier family 45 member 2)
SLC45A2 gene, having a chromosomal location 5p13.2, encodes a membrane associated transporter protein (MATP). MATP is a transmembrane protein. It is present in the melanosomal membrane in the melanocytes. It maintains the osmotic potential by regulating the pH of the melanosomal lumen. Defects in the SLC45A2 gene causes oculocutaneous albinism type IV; OCA I
OCA2 (OCA2 melanosomal transmembrane protein)
OCA2 gene (OCA2), having a chromosomal location of 15q12-q13, encodes an integral membrane transporter protein playing a role in regulating the pH of melanosomes. OCA2 is hypothesized to be involved in the transport of tyrosine, the precursor to melanin synthesis, within the melanocyte. Defects in this gene are the cause of oculocutaneous albinism type II; OCA II
An integrated and open-ended experiment: study of chemical waves in time and space
In this article we discuss an exciting experiment in non-linear dynamics. This provides an imaginative platform for bringing in chemical, physical, biological, mathematical and computational sciences together. There are implications for earth sciences as well
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