The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Application notesWB: Use at a concentration of 1-5 µg/ml.
Not yet tested in other applications. Optimal dilutions/concentrations should be determined by the end user.
FunctionSubunit of novel type of clathrin- or non-clathrin-associated protein coat involved in targeting proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system.
Tissue specificityUbiquitous. Highly expressed in testis and lowly expressed in brain and lung.
Involvement in diseaseDefects in AP4M1 are the cause of cerebral palsy spastic quadriplegic type 3 (CPSQ3) [MIM:612936]. A non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals present postnatally with early infantile hypotonia, delayed psychomotor development, strabismus, lack of independent walking and severe mental retardation. They develop progressive spasticity of all limbs with generalized hypertonia, hyperreflexia, and extensor plantar responses by the end of the first year of life. Speech is absent or limited. Pseudobulbar signs, such as drooling, stereotypic laughter, and exaggerated jaw jerk, are part of the clinical picture.
Sequence similaritiesBelongs to the adaptor complexes medium subunit family. Contains 1 MHD (mu homology) domain.
DomainInteracts specifically with tyrosine-based sorting signals.
Cellular localizationGolgi apparatus > trans-Golgi network. Membrane > coated pit. Associated with the trans-Golgi network. Found in soma and dendritic shafts of neuronal cells.