| Rab38 is a member of the Rab small G protein family and is mainly expressed in lung alveolar type II cells and melanocytes. In mice, the G146T Rab38 gene mutation results in loss of Rab38 function and causes abnormal pigmentation due to the loss of melanosomes. The Rab38 gene locus has been mapped to oculocutaneous albinism in Ruby rats, a model of human Hermansky-Pudlak Syndrome. Analysis of lung structure in the G146T mutation in mice and the Rab38 null mutation in rats also revealed an altered lung surfactant system with enlarged lamellar bodies in type II cells, indicating a role for Rab38 in lung function and development. Dysfunction mutation studies implicate Rab38 in the post-Golgi trafficking of enzymes (e.g. TYRP1) related to melanogenesis and stability. |
