Adaptor Protein Complex 4

This report describes an autosomal recessive form of spastic tetraplegic cerebral palsy with profound intellectual disability microcephaly epilepsy and white matter loss in a consanguineous family resulting from a homozygous deletion involving ap4e1 one of the four subunits of the adaptor protein complex 4 ap 4 identified by chromosomal microarray analysis.

Adaptor protein complex 4. Spg47 ap4b1 spg50 ap4m1 spg51 ap4e1 and spg52 ap4s1. A nonsense mutation in ap4s1 nm 007077 3. The heterotetrameric adaptor protein ap complexes sort integral membrane proteins at various stages of the endocytic and secretory pathways. 607244 adaptor related protein complex 4 epsilon 1 subunit.

Deficiency of the adaptor protein complex 4 ap 4 leads to childhood onset hereditary spastic paraplegia ap 4 hsp. Using a combination of autozygosity mapping and either sanger sequencing of candidate genes or next generation exome sequencing we identified one mutation in each of three genes encoding adaptor protein complex 4 ap4 subunits. Springer new york ny ris. C 124c t p arg42 a frameshift mutation in ap4b1 nm 006594 2.

It is currently hypothesized that ap4 complex mediated trafficking plays a crucial role in. Ap4 is composed of 2 large chains beta 4 ap4b1. 607244 a medium chain mu 4 ap4m1 and a small chain sigma 4 ap4s1. 2012 adaptor protein complex 4.

Ap4 is composed of 2 large chains beta 4 and epsilon 4 a medium chain mu 4 and a small chain sigma 4 ap4s1 this gene clinical relevance. Adaptor protein complex 4 deficiency causes severe autosomal recessive intellectual disability progressive spastic paraplegia shy character and short stature author links open overlay panel rami abou jamra 1 8 orianne philippe 2 8 annick raas rothschild 3 sebastian h. Clathrin adaptor proteins also known as adaptins are vesicular transport adaptor proteins associated with clathrin these proteins are synthesized in the ribosomes processed in the endoplasmic reticulum and transported from the golgi apparatus to the trans golgi network and from there via small carrier vesicles to their final destination compartment. Spg52 is caused by bi allelic loss of function variants in ap4s1 which encodes the sigma subunit of the adaptor protein complex 4 ap 4 and has been described in less than 10 individuals thus.

Eds encyclopedia of signaling molecules. The ap4m1 gene encodes a subunit of the heterotetrameric adaptor protein ap complex a component of intracellular transport of proteins that is thought to have a unique role in neurons. Eck 4 elisabeth graf 4 rebecca buchert 1 guntram borck 2 arif ekici 1.