WASL WASP like actin nucleation promoting factor
Gene ID: 8976, updated on 14-Nov-2024Gene type: protein coding
Also known as: NWASP; WASPB; N-WASP
- See all available tests in GTR for this gene
- Go to complete Gene record for WASL
- Go to Variation Viewer for WASL variants
Summary
This gene encodes a member of the Wiskott-Aldrich syndrome (WAS) protein family. Wiskott-Aldrich syndrome proteins share similar domain structure, and associate with a variety of signaling molecules to alter the actin cytoskeleton. The encoded protein is highly expressed in neural tissues, and interacts with several proteins involved in cytoskeletal organization, including cell division control protein 42 (CDC42) and the actin-related protein-2/3 (ARP2/3) complex. The encoded protein may be involved in the formation of long actin microspikes, and in neurite extension. [provided by RefSeq, Jul 2013]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Genome-wide meta-analysis identifies new susceptibility loci for migraine. GeneReviews: Not available | |
New gene functions in megakaryopoiesis and platelet formation. GeneReviews: Not available |
Genomic context
- Location:
- 7q31.32
- Sequence:
- Chromosome: 7; NC_000007.14 (123681943..123749003, complement)
- Total number of exons:
- 11
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for WASL variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.