AP4S1 gene

adaptor related protein complex 4 sigma 1 subunit

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Subunit of novel type of clathrin- or non-clathrin-associated protein coat involved in targeting proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system.

From NCBI Gene:

  • Spastic paraplegia 52, autosomal recessive

From UniProt:

Spastic paraplegia 52, autosomal recessive (SPG52): A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. SPG52 is characterized by neonatal hypotonia that progresses to hypertonia and spasticity, and severe mental retardation with poor or absent speech development. Some patients may have seizures. [MIM:614067]

Cytogenetic Location: 14q12, which is the long (q) arm of chromosome 14 at position 12

Molecular Location: base pairs 31,025,106 to 31,096,450 on chromosome 14 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 14q12, which is the long (q) arm of chromosome 14 at position 12
  • AP47B
  • CLA20
  • CLAPS4
  • CPSQ6
  • SPG52