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Gene : AP4S1 Homo sapiens

Name  ? adaptor related protein complex 4 subunit sigma 1 Cytological Location  14q12
Brief Description  adaptor related protein complex 4 subunit sigma 1
Description  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. [provided by RefSeq, Dec 2011]
  • synonyms:
  • SPG52,
  • AB030654,
  • AP4S1,
  • uc021rry.2,
  • AP47B,
  • CLA20,
  • HGNC:575,
  • CLA20,
  • CPSQ6,
  • OTTHUMG00000140202,
  • AP47B,
  • CLAPS4,
  • SPG52,
  • NM_001128126,
  • adaptor related protein complex 4 sigma 1 subunit
  • identifiers:
  • 11154,
  • ENSG00000100478,
  • AP4S1

Genome feature

Region: gene ? Length: 71345  
Location: 14:31025106-31096450 Cyto location: 14q12

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1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

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3740 SNPs

5 Cross References

19 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results