AP4B1( Human )

Entrez Gene 10717 Entrez Gene 10717
adaptor related protein complex 4 beta 1 subunit

Alias

BETA-4|CPSQ5|SPG47

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].

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