PIEZO1 piezo type mechanosensitive ion channel component 1 (Er blood group)
Gene ID: 9780, updated on 12-Nov-2024Gene type: protein coding
Also known as: ER; DHS; Mib; LMPH3; FAM38A; LMPHM6
- See all available tests in GTR for this gene
- Go to complete Gene record for PIEZO1
- Go to Variation Viewer for PIEZO1 variants
Summary
The protein encoded by this gene is a mechanically-activated ion channel that links mechanical forces to biological signals. The encoded protein contains 36 transmembrane domains and functions as a homotetramer. Defects in this gene have been associated with dehydrated hereditary stomatocytosis. [provided by RefSeq, Jul 2015]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Blood group, ER | not available |
| Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | See labs |
| Lymphatic malformation 6 | See labs |
| Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians. GeneReviews: Not available | |
| Seventy-five genetic loci influencing the human red blood cell. GeneReviews: Not available |
Genomic context
- Location:
- 16q24.3
- Sequence:
- Chromosome: 16; NC_000016.10 (88715338..88785220, complement)
- Total number of exons:
- 51
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PIEZO1 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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