Gene: AP4S1

Alternate names for this Gene: AP47B|CLA20|CLAPS4|CPSQ6|SPG52

Gene Summary: This gene encodes a member of the adaptor complexes small subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is the small subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Mutations in this gene are associated with spastic quadriplegic cerebral palsy-6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6.

Gene is located in Chromosome: 14

Location in Chromosome : 14q12

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

Type of Gene: protein-coding

rs1335804396 in AP4S1 gene and Dysmorphic features 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 27444738 2016 Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families.

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

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

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

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

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

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

PMID 24395635 2014 Adaptor proteins involved in polarized sorting.

PMID 28150420 2017 A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation.

rs755820725 in AP4S1 gene and Muscle hypotonia 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 27444738 2016 Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families.

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

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.

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

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

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

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

PMID 28150420 2017 A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation.

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

rs10483353 in AP4S1 gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10483353 in AP4S1 gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs754944359 in AP4S1 gene and Spastic Paraplegia PMID 27444738 2016 Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families.