LLGL1 LLGL scribble cell polarity complex component 1
Gene ID: 3996, updated on 6-Oct-2024Gene type: protein coding
Also known as: DLG4; HUGL; LLGL; Lgl1; Mgl1; HUGL1; HUGL-1
- See all available tests in GTR for this gene
- Go to complete Gene record for LLGL1
- Go to Variation Viewer for LLGL1 variants
Summary
This gene encodes a protein that is similar to a tumor suppressor in Drosophila. The protein is part of a cytoskeletal network and is associated with nonmuscle myosin II heavy chain and a kinase that specifically phosphorylates this protein at serine residues. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
Genomic context
- Location:
- 17p11.2
- Sequence:
- Chromosome: 17; NC_000017.11 (18225635..18244875)
- Total number of exons:
- 23
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for LLGL1 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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