WIPF1 WAS/WASL interacting protein family member 1
Gene ID: 7456, updated on 2-Nov-2024Gene type: protein coding
Also known as: WIP; WAS2; PRPL-2; WASPIP
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- Go to complete Gene record for WIPF1
- Go to Variation Viewer for WIPF1 variants
Summary
This gene encodes a protein that plays an important role in the organization of the actin cytoskeleton. The encoded protein binds to a region of Wiskott-Aldrich syndrome protein that is frequently mutated in Wiskott-Aldrich syndrome, an X-linked recessive disorder. Impairment of the interaction between these two proteins may contribute to the disease. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]
Associated conditions
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Description | Tests |
---|---|
Wiskott-Aldrich syndrome 2 | See labs |
Genomic context
- Location:
- 2q31.1
- Sequence:
- Chromosome: 2; NC_000002.12 (174559574..174682913, complement)
- Total number of exons:
- 18
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for WIPF1 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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