AP4B1
Sign in to saveAlso known as BETA-4, CPSQ5, SPG47, adaptor related protein complex 4 beta 1 subunit, adaptor related protein complex 4 subunit beta 1
AP-4 complex subunit beta-1 is a protein that in humans is encoded by the AP4B1 gene.
Gene data
AP4B1- Name
- adaptor related protein complex 4 subunit beta 1
- Type
- protein-coding
- Aliases
- 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].
via MyGene.info
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 38203
- exact match
- identifiers.org/ncbigene/10717
- genomic end
- 114447823
- genomic start
- 113894194
- cytogenetic location
- 1p13.2
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Article
6 sectionsContents
- Function
- Interactions
- Clinical relevance
- References
- External links
- Further reading
AP-4 complex subunit beta-1 is a protein that in humans is encoded by the AP4B1 gene.
== Function ==