AP4M1 Antibody – Rabbit Polyclonal

This gene encodes a subunit of the heterotetrameric AP-4 complex. The encoded protein belongs to the adaptor complexes medium subunits family. This AP-4 complex is involved in the recognition and sorting of cargo proteins with tyrosine-based motifs from the trans-golgi network to the endosomal-lysosomal system. [provided by RefSeq, Jul 2008]

AP4M1: 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. Defects in AP4M1 are the cause of cerebral palsy spastic quadriplegic type 3 (CPSQ3). 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. Belongs to the adaptor complexes medium subunit family.

Protein type: Adaptor/scaffold

Chromosomal Location of Human Ortholog: 7q22.1

Cellular Component: AP-type membrane coat adaptor complex; clathrin adaptor complex; cytosol; Golgi trans cisterna; trans-Golgi network; trans-Golgi network membrane

Molecular Function: protein binding; transporter activity

Biological Process: Golgi to endosome transport; intracellular protein transport; vesicle-mediated transport

Disease: Spastic Paraplegia 50, Autosomal Recessive