Hermansky–Pudlak syndrome is a disorder of organelle biogenesis in which oculocutaneous albinism, bleeding, and pulmonary fibrosis result from defects of melanosomes, platelet dense granules, and lysosomes. Mutations in this gene as well as several others can cause this syndrome. The protein encoded by this gene appears to be important in organelle biogenesis and is similar to the mouse 'light ear' protein. Five transcript variants encoding different isoforms have been found for this gene. In addition, transcript variants utilizing alternative polyadenylation signals exist.[7]
In melanocytic cells HPS4 gene expression may be regulated by MITF.[8]
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Suzuki T, Li W, Zhang Q, Karim A, Novak EK, Sviderskaya EV, Hill SP, Bennett DC, Levin AV, Nieuwenhuis HK, Fong CT, Castellan C, Miterski B, Swank RT, Spritz RA (Mar 2002). "Hermansky–Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene". Nat Genet. 30 (3): 321–4. doi:10.1038/ng835. PMID11836498. S2CID2470873.
Anderson PD, Huizing M, Claassen DA, et al. (2003). "Hermansky–Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics". Hum. Genet. 113 (1): 10–7. doi:10.1007/s00439-003-0933-5. PMID12664304. S2CID21758434.
