AP4B1 gene

adaptor related protein complex 4 beta 1 subunit

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

From NCBI Gene:

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]

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 47, autosomal recessive

From UniProt:

Cerebral palsy, spastic quadriplegic 5 (CPSQ5): A neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity, and severe mental retardation with poor or absent speech development. [MIM:614066]

Cytogenetic Location: 1p13.2, which is the short (p) arm of chromosome 1 at position 13.2

Molecular Location: base pairs 113,894,194 to 113,905,202 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1p13.2, which is the short (p) arm of chromosome 1 at position 13.2
  • BETA-4
  • CPSQ5
  • SPG47