The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
应用说明WB: 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.
功能Subunit 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.
组织特异性Ubiquitous. Highly expressed in testis and lowly expressed in brain and lung.
疾病相关Defects 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.
序列相似性Belongs to the adaptor complexes medium subunit family. Contains 1 MHD (mu homology) domain.
结构域Interacts specifically with tyrosine-based sorting signals.
细胞定位Golgi apparatus > trans-Golgi network. Membrane > coated pit. Associated with the trans-Golgi network. Found in soma and dendritic shafts of neuronal cells.