AP5Z1 gene

adaptor related protein complex 5 zeta 1 subunit

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

From NCBI Gene:

This gene was identified by genome-wide screen for genes involved in homologous recombination DNA double-strand break repair (HR-DSBR). The encoded protein was found in a complex with other proteins that have a role in HR-DSBR. Knockdown of this gene reduced homologous recombination, and mutations in this gene were found in patients with spastic paraplegia. It was concluded that this gene likely encodes a helicase (PMID:20613862). [provided by RefSeq, Jan 2011]

From UniProt:

As part of AP-5, a probable fifth adaptor protein complex it may be involved in endosomal transport. According to PubMed:20613862 it is a putative helicase required for efficient homologous recombination DNA double-strand break repair.

From NCBI Gene:

  • Spastic paraplegia 48, autosomal recessive

From UniProt:

Spastic paraplegia 48, autosomal recessive (SPG48): A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. [MIM:613647]

Cytogenetic Location: 7p22.2, which is the short (p) arm of chromosome 7 at position 22.2

Molecular Location: base pairs 4,775,617 to 4,794,395 on chromosome 7 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 7p22.2, which is the short (p) arm of chromosome 7 at position 22.2
  • KIAA0415
  • SPG48
  • zeta