Gene Symbol | AP4B1 |
Entrez Gene ID | 10717 |
Full Name | adaptor related protein complex 4 beta 1 subunit |
Synonyms | BETA-4,CPSQ5,SPG47 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Spastic paraplegia 47, autosomal recessive, 614066 (3) |