CRYM crystallin mu
Gene ID: 1428, updated on 17-Sep-2024Gene type: protein coding
Also known as: THBP; DFNA40
- See all available tests in GTR for this gene
- Go to complete Gene record for CRYM
- Go to Variation Viewer for CRYM variants
Summary
Crystallins are separated into two classes: taxon-specific and ubiquitous. The former class is also called phylogenetically-restricted crystallins. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. This gene encodes a taxon-specific crystallin protein that binds NADPH and has sequence similarity to bacterial ornithine cyclodeaminases. The encoded protein does not perform a structural role in lens tissue, and instead it binds thyroid hormone for possible regulatory or developmental roles. Mutations in this gene have been associated with autosomal dominant non-syndromic deafness. [provided by RefSeq, Sep 2014]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Autosomal dominant nonsyndromic hearing loss 40 | See labs |
Genomic context
- Location:
- 16p12.2
- Sequence:
- Chromosome: 16; NC_000016.10 (21258521..21303062, complement)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CRYM variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ALSoD/CRYM genetic mutations
- ClinVarRelated medical variations
- CRYM @ LOVD
- 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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