Basic Information
MANE select
Transcripts
| ID | Sequence | Length | GC content |
|---|---|---|---|
| AGCAGUCAGCGCACGCCGAGCGGCUGCCGGGGGAAGCAGAGGCGCCGGA… | 15568 nt | 0.4939 | |
| AGCAGUCAGCGCACGCCGAGCGGCUGCCGGGGGAAGCAGAGGCGCCGGA… | 15553 nt | 0.4939 |
Summary
The protein encoded by this gene is a ryanodine receptor, which functions to release calcium from intracellular storage for use in many cellular processes. For example, the encoded protein is involved in skeletal muscle contraction by releasing calcium from the sarcoplasmic reticulum followed by depolarization of T-tubules. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
Forensic Context
A study in mice, rats, C. elegans, and Drosophila demonstrated that the RYR3 is a modulator of ethanol sensitivity and tolerance, with human GWAS showing suggestive association with alcohol dependence [Farris et al. DOI:10.1016/J.Alcohol.2017.11.036]. In human forensic pathology, a specific 4-bp Indel polymorphism (rs10692285) in the related RYR2 gene was significantly associated with an increased risk of Sudden Unexplained Death (OR=2.03) in a Chinese population, with the insertion allele correlating with higher myocardial RYR2 expression at both mRNA and protein levels [Wang et al. DOI:10.1016/J.Forsciint.2016.12.005].