{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T23:32:08Z","timestamp":1791415928307,"version":"4.3.3"},"reference-count":65,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2016,8,8]],"date-time":"2016-08-08T00:00:00Z","timestamp":1470614400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Cellular Biochemistry"],"published-print":{"date-parts":[[2016,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:label\/><jats:p>Oculocutaneous albinism type IV (OCA4) is an autosomal recessive inherited disorder which is characterized by reduced biosynthesis of melanin pigmentation in skin, hair, and eyes and caused by the genetic mutations in the membrane\u2010associated transporter protein (MATP) encoded by SLC45A2 gene. The MATP protein consists of 530 amino acids which contains 12 putative transmembrane domains and plays an important role in pigmentation and probably functions as a membrane transporter in melanosomes. We scrutinized the most OCA4 disease\u2010associated mutation and their structural consequences on SLC45A2 gene. To understand the atomic arrangement in 3D space, the native and mutant structures were modeled. Further the structural behavior of native and mutant MATP protein was investigated by molecular dynamics simulation (MDS) approach in explicit lipid and water background. We found Y317C as the most deleterious and disease\u2010associated SNP on SLC45A2 gene. In MDS, mutations in MATP protein showed loss of stability and became more flexible, which alter its structural conformation and function. This phenomenon has indicated a significant role in inducing OCA4. Our study explored the understanding of molecular mechanism of MATP protein upon mutation at atomic level and further helps in the field of pharmacogenomics to develop a personalized medicine for OCA4 disorder. J. Cell. Biochem. 117: 2608\u20132619, 2016. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jcb.25555","type":"journal-article","created":{"date-parts":[[2016,3,28]],"date-time":"2016-03-28T12:01:47Z","timestamp":1459166507000},"page":"2608-2619","source":"Crossref","is-referenced-by-count":63,"title":["Mutational Analysis on Membrane Associated Transporter Protein (MATP) and Their Structural Consequences in Oculocutaeous Albinism Type 4 (OCA4)\u2014A Molecular Dynamics Approach"],"prefix":"10.1002","volume":"117","author":[{"given":"Balu","family":"Kamaraj","sequence":"first","affiliation":[{"name":"Research Group PLASMANT Department of Chemistry University of Antwerp Universiteitsplein 1, 2610 Wilrijk\u2010Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rituraj","family":"Purohit","sequence":"additional","affiliation":[{"name":"Department of Biotechnology CSIR\u2010Institute of Himalayan Bioresource Technology Palampur Himachal 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