LNX1 ligand of numb-protein X 1
Gene ID: 84708, updated on 18-Sep-2024Gene type: protein coding
Also known as: LNX; MPDZ; PDZRN2
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- Go to complete Gene record for LNX1
- Go to Variation Viewer for LNX1 variants
Summary
This gene encodes a membrane-bound protein that is involved in signal transduction and protein interactions. The encoded product is an E3 ubiquitin-protein ligase, which mediates ubiquitination and subsequent proteasomal degradation of proteins containing phosphotyrosine binding (PTB) domains. This protein may play an important role in tumorogenesis. Alternatively spliced transcript variants encoding distinct isoforms have been described. A pseudogene, which is located on chromosome 17, has been identified for this gene. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association. GeneReviews: Not available |
Genomic context
- Location:
- 4q12
- Sequence:
- Chromosome: 4; NC_000004.12 (53459301..53652477, complement)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for LNX1 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
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