KLHL41 kelch like family member 41
Gene ID: 10324, updated on 2-Nov-2024Gene type: protein coding
Also known as: Krp1; KBTBD10; SARCOSIN
- See all available tests in GTR for this gene
- Go to complete Gene record for KLHL41
- Go to Variation Viewer for KLHL41 variants
Summary
This gene is a member of the kelch-like family. The encoded protein contains a BACK domain, a BTB/POZ domain, and 5 Kelch repeats. This protein is thought to function in skeletal muscle development and maintenance. Mutations in this gene have been associated with nemaline myopathy (NM), a rare congenital muscle disorder. [provided by RefSeq, Mar 2015]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Nemaline myopathy 9 | See labs |
Genomic context
- Location:
- 2q31.1
- Sequence:
- Chromosome: 2; NC_000002.12 (169509702..169526258)
- Total number of exons:
- 6
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for KLHL41 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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