PHLDB1 pleckstrin homology like domain family B member 1
Gene ID: 23187, updated on 3-Nov-2024Gene type: protein coding
Also known as: LL5A; OI23; LL5alpha
- See all available tests in GTR for this gene
- Go to complete Gene record for PHLDB1
- Go to Variation Viewer for PHLDB1 variants
Summary
Involved in regulation of embryonic development; regulation of epithelial to mesenchymal transition; and regulation of microtubule cytoskeleton organization. Located in several cellular components, including basal cortex; cytosol; and intercellular bridge. Implicated in osteogenesis imperfecta. [provided by Alliance of Genome Resources, Nov 2024]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Association analyses identify three susceptibility Loci for vitiligo in the Chinese Han population. GeneReviews: Not available | |
| Chromosome 7p11.2 (EGFR) variation influences glioma risk. GeneReviews: Not available | |
| Discovery and refinement of loci associated with lipid levels. GeneReviews: Not available | |
| Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans. GeneReviews: Not available | |
| Genome-wide association study identifies five susceptibility loci for glioma. GeneReviews: Not available | |
| Osteogenesis imperfecta, type 23 | not available |
Genomic context
- Location:
- 11q23.3
- Sequence:
- Chromosome: 11; NC_000011.10 (118606436..118658028)
- Total number of exons:
- 35
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PHLDB1 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
- Variation ViewerRelated Variants
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