Gene: AP4M1

Alternate names for this Gene: CPSQ3|MU-4|MU-ARP2|SPG50

Gene Summary: 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.

Gene is located in Chromosome: 7

Location in Chromosome : 7q22.1

Description of this Gene: adaptor related protein complex 4 subunit mu 1

Type of Gene: protein-coding

rs2293479 in AP4M1 gene and Alzheimer's Disease PMID 29777097 2018 GWAS on family history of Alzheimer's disease.

rs1554380093 in AP4M1 gene and Movement Disorders PMID 25552650 2015 Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.

PMID 24700674 2014 Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features.

PMID 25496299 2014 A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency.

PMID 21937992 2011 Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

PMID 20972249 2011 Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability.

PMID 19559397 2009 Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.

PMID 23472171 2013 A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease.

PMID 24781758 2015 An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.

PMID 23167973 2013 Adaptor protein complexes AP-4 and AP-5: new players in endosomal trafficking and progressive spastic paraplegia.

PMID 21620353 2011 Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.

PMID 24395635 2014 Adaptor proteins involved in polarized sorting.