AP-5 complex subunit beta (AP5B1) is a

protein Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respo ...

that in humans is encoded by the ''AP5B1''

gene In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...

Function

The protein encoded by this gene is one of two large subunits of the

AP5 adaptor complex Clathrin adaptor proteins, also known as adaptins, are vesicular transport adaptor proteins associated with clathrin. These proteins are synthesized in the ribosomes, processed in the endoplasmic reticulum and transported from the Golgi apparatus t ...

. Variants in this gene have not been implicated in any disease but damaging variants in

AP5Z1 AP-5 complex subunit zeta (AP5Z1) is a protein that in humans is encoded by the ''AP5Z1'' gene. Function The protein encoded by this gene is one of two large subunits of the AP5 adaptor complex. Damaging variants in this gene are associated ...

, the gene encoding the other large subunit in this complex, are associated with SPG48, a type of

hereditary spastic paraplegia Hereditary spastic paraplegia (HSP) is a group of inherited diseases whose main feature is a progressive gait disorder. The disease presents with progressive stiffness (spasticity) and contraction in the lower limbs. HSP is also known as hereditar ...

. 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

SPG11 Spatacsin is a protein that in humans is encoded by the ''SPG11'' gene. Function Spatacsin, in combination with the SPG15 protein, attaches the AP5 adaptor complex to the outside of late Endosomes or Lysosomes when the protein via which it binds ...

with the disease of the same name and

ZFYVE26 Zinc finger, FYVE domain containing 26 is a protein that in humans is encoded by the ZFYVE26 gene. Function This gene encodes a protein which contains a FYVE zinc finger binding domain. The presence of this domain is thought to target these pr ...

with SPG15. GnomAD reports an observed v. expected ratio of predicted loss-of-function variants of 0.84 (0.58 - 1.24) for AP5B1.

References

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