AP4B1 Antibody – Mouse Monoclonal

This gene encodes a subunit of a heterotetrameric adapter-like complex 4 that is involved in targeting proteins from the trans-Golgi network to the endosomal-lysosomal system. Mutations in this gene are associated with cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

AP4B1: 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 AP4B1 are the cause of cerebral palsy spastic quadriplegic type 5 (CPSQ5). CPSQ5 is a neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity, and severe mental retardation with poor or absent speech development. Belongs to the adaptor complexes large subunit family.

Protein type: Adaptor/scaffold

Chromosomal Location of Human Ortholog: 1p13.2

Cellular Component: clathrin adaptor complex; coated pit; trans-Golgi network

Molecular Function: transporter activity; protein transporter activity

Biological Process: vesicle-mediated transport; intracellular protein transport

Disease: Spastic Paraplegia 47, Autosomal Recessive