A gene (nonimprinted gene in Prader–Willi syndrome/Angelman's syndrome chromosome region 1) that encodes a putative membrane transporter or receptor (deduced 329 aa) and is defective in hereditary spastic paraplegia (SPG6). It is highly expressed in neuronal tissues. The function is unknown but the Drosophila orthologue spichthyin seems to inhibit bone morphogenetic protein (BMP) signalling to the microtubule cytoskeleton and promotes the internalization of BMP receptors from the plasma membrane. Spichthyin is also an orthologue of ichthyin which is mutated in autosomal recessive congenital ichthyosis.
Subjects: Medicine and Health.