WDR45 WD repeat domain 45
Gene ID: 11152, updated on 27-Aug-2024Gene type: protein coding
Also known as: JM5; NBIA4; NBIA5; WDRX1; WIPI4; WIPI-4
- See all available tests in GTR for this gene
- Go to complete Gene record for WDR45
- Go to Variation Viewer for WDR45 variants
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]
Associated conditions
Copy number response
Description |
---|
Copy number response Triplosensitivity No evidence available (Last evaluated 2015-04-09) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2015-04-09) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- Xp11.23
- Sequence:
- Chromosome: X; NC_000023.11 (49074442..49101178, complement)
- Total number of exons:
- 13
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for WDR45 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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