SPEG striated muscle enriched protein kinase
Gene ID: 10290, updated on 7-Apr-2024Gene type: protein coding
Also known as: BPEG; CNM5; APEG1; MYLK6; APEG-1; SPEGbeta; SPEGalpha
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- Go to complete Gene record for SPEG
- Go to Variation Viewer for SPEG variants
Summary
This gene encodes a protein with similarity to members of the myosin light chain kinase family. This protein family is required for myocyte cytoskeletal development. Along with the desmin gene, expression of this gene may be controlled by the desmin locus control region. Mutations in this gene are associated with centronuclear myopathy 5. [provided by RefSeq, Jun 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Myopathy, centronuclear, 5 | See labs |
Genomic context
- Location:
- 2q35
- Sequence:
- Chromosome: 2; NC_000002.12 (219434843..219493629)
- Total number of exons:
- 49
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SPEG 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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