Aliases for WDR45 Gene
External Ids for WDR45 Gene
Previous HGNC Symbols for WDR45 Gene
Previous GeneCards Identifiers for WDR45 Gene
This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene has a pseudogene at chromosome 4q31.3. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity and full-length nature of some variants have not been determined. [provided by RefSeq, Jul 2008]
GeneCards Summary for WDR45 Gene
WDR45 (WD Repeat Domain 45) is a Protein Coding gene. Diseases associated with WDR45 include neurodegeneration with brain iron accululation 5 and spastic paraplegia 43, autosomal recessive. Among its related pathways are Cellular Senescence and mTOR signalling. GO annotations related to this gene include phosphatidylinositol-3-phosphate binding and phosphatidylinositol-3,5-bisphosphate binding. An important paralog of this gene is WDR45B.
UniProtKB/Swiss-Prot for WDR45 Gene
Plays an important role in the autophagy pathway, which is the major intracellular degradation system by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation.