AKAP6 A-kinase anchoring protein 6
Gene ID: 9472, updated on 18-Sep-2024Gene type: protein coding
Also known as: ADAP6; PRKA6; mAKAP; ADAP100; AKAP100
- See all available tests in GTR for this gene
- Go to complete Gene record for AKAP6
- Go to Variation Viewer for AKAP6 variants
Summary
The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is highly expressed in various brain regions and cardiac and skeletal muscle. It is specifically localized to the sarcoplasmic reticulum and nuclear membrane, and is involved in anchoring PKA to the nuclear membrane or sarcoplasmic reticulum. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. GeneReviews: Not available | |
| A genome-wide association study on common SNPs and rare CNVs in anorexia nervosa. GeneReviews: Not available | |
| The genetic architecture of economic and political preferences. GeneReviews: Not available |
Genomic context
- Location:
- 14q12
- Sequence:
- Chromosome: 14; NC_000014.9 (32329298..32837684)
- Total number of exons:
- 26
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for AKAP6 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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