WDR45 WD repeat domain 45

Gene ID: 11152, updated on 17-Jun-2024
Gene type: protein coding
Also known as: JM5; NBIA4; NBIA5; WDRX1; WIPI4; WIPI-4

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

See all available tests in GTR for this gene

Description	Tests
Neurodegeneration with brain iron accumulation 5 MedGen: C3550973OMIM: 300894GeneReviews: Neurodegeneration with Brain Iron Accumulation Disorders Overview, Beta-Propeller Protein-Associated Neurodegeneration	See labs
Oculocutaneous albinism type 7 MedGen: C3808786OMIM: 615179GeneReviews: Oculocutaneous Albinism and Ocular Albinism Overview	See labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2015-04-09) ClinGen Genome Curation Page Haploinsufficency 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

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

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

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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