PLCH1 phospholipase C eta 1
Gene ID: 23007, updated on 17-Jun-2024Gene type: protein coding
Also known as: HPE14; PLCL3; PLC-L3; PLC eta 1
- See all available tests in GTR for this gene
- Go to complete Gene record for PLCH1
- Go to Variation Viewer for PLCH1 variants
Summary
PLCH1 is a member of the PLC-eta family of the phosphoinositide-specific phospholipase C (PLC) superfamily of enzymes that cleave phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) to generate second messengers inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) (Hwang et al., 2005 [PubMed 15702972]).[supplied by OMIM, Jun 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Holoprosencephaly 14 | not available |
| Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. GeneReviews: Not available |
Genomic context
- Location:
- 3q25.31
- Sequence:
- Chromosome: 3; NC_000003.12 (155450934..155745071, complement)
- Total number of exons:
- 33
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PLCH1 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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