KLHL40 kelch like family member 40
Gene ID: 131377, updated on 5-Mar-2024Gene type: protein coding
Also known as: NEM8; SRYP; SYRP; KBTBD5
- See all available tests in GTR for this gene
- Go to complete Gene record for KLHL40
- Go to Variation Viewer for KLHL40 variants
Summary
This gene encodes a protein containing a BACK domain, a BTB/POZ domain, and 5 Kelch repeats, however, its exact function is not known. The gene and the multi-domain protein structure are conserved across different taxa, including primates, rodents, chicken and zebrafish. [provided by RefSeq, Dec 2012]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Nemaline myopathy 8 | See labs |
Genomic context
- Location:
- 3p22.1
- Sequence:
- Chromosome: 3; NC_000003.12 (42685537..42692544)
- Total number of exons:
- 6
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for KLHL40 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- KLHL40 homepage - Leiden Muscular Dystrophy pages
- 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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