AP5B1

AP-5 complex subunit beta is a protein that in humans is encoded by the AP5B1 gene.

Function

The protein encoded by this gene is one of two large subunits of the AP5 [adaptor complex]. Variants in this gene have not been implicated in any disease but damaging variants in AP5Z1, the gene encoding the other large subunit in this complex, are associated with SPG48, a type of hereditary [spastic paraplegia]. In addition, damaging variants in the genes encoding two proteins that stably associate with the AP-5 adaptor complex are also associated with forms of hereditary spastic paraplegia - SPG11 with the disease of the same name and ZFYVE26 with SPG15.
GnomAD reports an observed v. expected ratio of predicted loss-of-function variants of 0.84 for AP5B1.