9/25/2023 0 Comments Albino people with purple eyesOculocutanous albinism results from mutations in genes that code for proteins that are involved in melanin production. Oculocutanous albinism is a recessive disorder where affected individuals exhibit melanin deficiency in the skin, hair, and eyes. The most prevalent and visually identifiable form of albinism is oculocutanous albinism. Exploiting the AlphaFold2 multimeric modelling protocol in combination with conventional homology modelling allowed the building of plausible homodimers in both inward- and outward-facing conformations, supporting an elevator-type transport mechanism.Īlbinism is a hereditary condition affecting the synthesis of melanin. Known critical pathogenic mutations map to structural features present in the repeat regions that form the transport domain. Analysis of the putative ligand binding site of the model shows the presence of highly conserved key asparagine residues that suggest Oca2 may be a Na +/dicarboxylate symporter. The GOLD domain harbours some known glycosylation sites. In addition to the scaffold and transport domains, the presence of a cryptic GOLD domain is revealed that is likely responsible for its trafficking from the endoplasmic reticulum to the Golgi prior to localisation at the melanosomes. This finding contradicts the prevailing consensus view of its topology. The modelling of Oca2 with AlphaFold2 and other advanced methods show that, like SLC13 members, it consists of a scaffold and transport domain and displays a pseudo inverted repeat topology that includes re-entrant loops. Sequence analysis predicts Oca2 to be a member of the SLC13 transporter family, but it has not been classified into any existing SLC families. ![]() Mutations of Oca2 can result in a form of oculocutanous albinism, which is the most prevalent and visually identifiable form of albinism. This study centres on human Oca2 which is located on mature melanosomal membranes. ![]() Recent innovations in computational structural biology have opened an opportunity to revise our current understanding of the structure and function of clinically important proteins.
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