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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 beta 1 subunit
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:
  • AP-4 complex subunit beta-1,
  • AP4B1,
  • BETA-4,
  • beta 4 subunit of AP-4,
  • NM_006594,
  • adaptor related protein complex 4 beta 1 subunit,
  • OTTHUMG00000011943,
  • spastic paraplegia 47,
  • SPG47,
  • BETA-4,
  • uc001eed.4,
  • AF092094,
  • HGNC:572,
  • SPG47,
  • CPSQ5
  • identifiers:
  • 10717,
  • ENSG00000134262,
  • AP4B1

Genome feature

Region: gene ? Length: 10931  
Location: 1:113894194-113905124 reverse strand Cyto location: 1p13.2


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Disease

1 Diseases

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2011 SN Ps

5 Cross References

19 Data Sets

7 Homologues

0 Located Features

90 Rna Seq Results