AP5B1
Description
The AP5B1 (adaptor related protein complex 5 subunit beta 1) is a protein-coding gene located on chromosome 11.
AP5B1 (AP-5 complex subunit beta) is a protein encoded by the AP5B1 gene in humans. It is one of two large subunits of the AP5 adaptor complex. While no disease associations have been linked to variants in AP5B1, damaging variants in AP5Z1 (the other large subunit) are associated with SPG48, a type of hereditary spastic paraplegia. Additionally, harmful variants in SPG11 and ZFYVE26, genes encoding proteins that interact with the AP-5 complex, are also linked to forms of hereditary spastic paraplegia - SPG11 with the disease of the same name and ZFYVE26 with SPG15. The observed-to-expected ratio of predicted loss-of-function variants for AP5B1, according to GnomAD, is 0.84 (0.58 - 1.24).
AP5B1, as part of the AP-5 complex, potentially contributes to endosomal transport.
AP5B1 is also known as AP-5, PP1030.
Associated Diseases
- hereditary spastic paraplegia
- asthma
- childhood onset asthma
- allergic disease
- refractive error
- systemic lupus erythematosus
