PLEKHM1 pleckstrin homology and RUN domain containing M1
Gene ID: 9842, updated on 27-Nov-2024Gene type: protein coding
Also known as: B2; AP162; OPTA3; OPTB6
- See all available tests in GTR for this gene
- Go to complete Gene record for PLEKHM1
- Go to Variation Viewer for PLEKHM1 variants
Summary
The protein encoded by this gene is essential for bone resorption, and may play a critical role in vesicular transport in the osteoclast. Mutations in this gene are associated with autosomal recessive osteopetrosis type 6 (OPTB6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Autosomal recessive osteopetrosis 6 | See labs |
| Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease. GeneReviews: Not available | |
| Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. GeneReviews: Not available | |
| Osteopetrosis, autosomal dominant 3 | See labs |
Genomic context
- Location:
- 17q21.31
- Sequence:
- Chromosome: 17; NC_000017.11 (45434209..45490721, complement)
- Total number of exons:
- 17
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PLEKHM1 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
- PLEKHM1 database
- 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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