WDR45B WD repeat domain 45B

Gene ID: 56270, updated on 11-Apr-2024
Gene type: protein coding
Also known as: WIPI3; WDR45L; WIPI-3; NEDSBAS

Summary

This gene encodes a member of the WIPI or SVP1 family of WD40 repeat-containing proteins. The protein contains seven WD40 repeats that are thought to fold into a beta-propeller structure that mediates protein-protein interactions, and a conserved motif for interaction with phospholipids. The human genome contains several pseudogenes of this gene. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures MedGen: C4693816OMIM: 617977GeneReviews: El-Hattab-Alkuraya Syndrome	See labs

Genomic context

Location:: 17q25.3

Sequence:: Chromosome: 17; NC_000017.11 (82614562..82648444, 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 WDR45B 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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