HOME

TheInfoList



OR:

AP-3 complex subunit mu-1 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, respon ...
that in humans is encoded by the ''AP3M1''
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 b ...
. The protein encoded by this gene is the medium subunit of AP-3, which is an adaptor-related protein complex associated with the
Golgi Golgi may refer to: *Camillo Golgi (1843–1926), Italian physician and scientist after whom the following terms are named: **Golgi apparatus (also called the Golgi body, Golgi complex, or dictyosome), an organelle in a eukaryotic cell **Golgi tend ...
region as well as more peripheral intracellular structures. AP-3 facilitates the budding of vesicles from the Golgi membrane and may be directly involved in protein sorting to the
endosomal Endosomes are a collection of intracellular sorting organelles in eukaryotic cells. They are parts of endocytic membrane transport pathway originating from the trans Golgi network. Molecules or ligands internalized from the plasma membrane can ...
/
lysosomal A lysosome () is a membrane-bound organelle found in many animal cells. They are spherical vesicles that contain hydrolytic enzymes that can break down many kinds of biomolecules. A lysosome has a specific composition, of both its membrane pr ...
system. AP-3 is a heterotetrameric protein complex composed of two large subunits (delta and beta3), a medium subunit ( mu3), and a small subunit ( sigma 3). Mutations in one of the large subunits of AP-3 have been associated with the Hermansky-Pudlak syndrome, a genetic disorder characterized by defective lysosome-related
organelles In cell biology, an organelle is a specialized subunit, usually within a cell, that has a specific function. The name ''organelle'' comes from the idea that these structures are parts of cells, as organs are to the body, hence ''organelle,'' th ...
. Alternatively spliced transcript variants encoding the same protein have been observed.


References


External links

*


Further reading

* * * * * * * * * * * * * * * {{gene-10-stub