Hermansky-Pudlak syndrome 1 pseudogene (null)

The Hermansky-Pudlak syndrome 1 pseudogene is a nonfunctional genetic element located on chromosome 22q12.2-12.3, containing sequence homologous to the functional HPS1 gene, which is responsible for Hermansky-Pudlak syndrome 1, a disorder characterized by albinism, bleeding, and lysosomal storage defects. The pseudogene contains multiple exons with high sequence identity to the HPS1 gene but is not transcribed or translated to yield a functional protein. Its high homology to the functional gene can interfere with molecular diagnostic assays, leading to potential false positives in mutation screening; thus, special care must be exercised in the genetic analysis of Hermansky-Pudlak syndrome involving HPS1[1][2][5].

Other names

HPS1-psi1Hermansky-Pudlak syndrome 1 pseudogeneLOC100500719

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