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Gene : AP4B1 Homo sapiens

Name  ? adaptor related protein complex 4 subunit beta 1 Cytological Location  1p13.2
Brief Description  adaptor related protein complex 4 subunit beta 1
Description  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]
  • synonyms:
  • AF092094,
  • spastic paraplegia 47,
  • adaptor related protein complex 4 beta 1 subunit,
  • NM_006594,
  • AP-4 complex subunit beta-1,
  • BETA-4,
  • OTTHUMG00000011943,
  • SPG47,
  • HGNC:572,
  • SPG47,
  • beta 4 subunit of AP-4,
  • BETA-4,
  • uc001eed.4,
  • CPSQ5,
  • AP4B1
  • identifiers:
  • 10717,
  • ENSG00000134262,
  • AP4B1

Genome feature

Region: gene ? Length: 10874  
Location: 1:113894194-113905067 reverse strand Cyto location: 1p13.2

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Gene -> HPO annotation (Human Phenotype Ontology)

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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)

Mouse Gene --> Allele [Phenotype]


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Gene Ontology

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3753 SN Ps

5 Cross References

19 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results