Gene Symbol | AP4S1 |
Entrez Gene ID | 11154 |
Full Name | adaptor related protein complex 4 sigma 1 subunit |
Synonyms | AP47B,CLA20,CLAPS4,CPSQ6,SPG52 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the adaptor complexes small subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is the small subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Mutations in this gene are associated with spastic quadriplegic cerebral palsy-6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Dec 2011]. |
Disorder MIM: | |
Disorder Html: | Spastic paraplegia 52, autosomal recessive, 614067 (3) |