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AP4B1 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. Additionally we are shipping AP4B1 Proteins (3) and many more products for this protein.
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Novel homozygous 2-bp deletion in AP4B1 was found in siblings with intellectual disability and spastic tetraplegia.
Data suggest that AP4B1 mutations cause spastic paraplegia type 47 and should be considered in early onset spastic paraplegia with intellectual disability.
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.
AP-4 complex subunit beta-1
, adaptor-related protein complex 4, beta 1 subunit
, beta adaptin
, AP-4 complex subunit beta-1-like
, beta 4 subunit of AP-4
, spastic paraplegia 47
, adaptor-related protein complex AP-4, beta 1
, AP-4 adapter complex subunit beta
, AP-4 beta-4
, adapter-related protein complex 4 subunit beta-1
, beta subunit of AP-4