Gene Symbol | WDR45 |
Entrez Gene ID | 11152 |
Full Name | WD repeat domain 45 |
Synonyms | JM5,NBIA4,NBIA5,WDRX1,WIPI-4,WIPI4 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Neurodegeneration with brain iron accumulation 5, 300894 (3) |