CRYM Gene Summary [Human]
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]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | CRYM |
| Official Name | crystallin mu [Source:HGNC Symbol;Acc:HGNC:2418] |
| Ensembl ID | ENSG00000103316 |
| Bio databases IDs | |
| Aliases | crystallin mu, thiomorpholine-carboxylate dehydrogenase, mu-crystallin |
| Synonyms | Cdk108, CRYSTALLIN MU, crystallin, mu, CTBP, DFNA40, Mu crystallin homolog, THBP |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CRYM often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Rossmann-fold NAD(P)(+)-binding proteins
- hormone binding
- NADP binding
- transcription co-repressor
- NAD binding domain of 6-phosphogluconate dehydrogenase
- protein homodimerization
- enzyme
- protein binding
- alanine dehydrogenase, Archaeoglobus fulgidus type
- thiomorpholine-carboxylate dehydrogenase
- Ornithine cyclodeaminase/mu-crystallin family
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- schizophrenia
- Huntington disease
- epileptic seizure
- pelvic organ prolapse
- autosomal dominant deafness type 40
- cutaneous telangiectasia
- early missed abortion
- familial nonsyndromic hearing impairment
- proximal tubular toxicity
regulates
- L-triiodothyronine
- DNA promoter
- DNA endogenous promoter
- L-lysine
- RNA polymerase II
- thyroid hormone
- GH1
- LDH (complex)
- levothyroxine
role in cell
- expression in
- transport in
- cross-sectional area
- transport
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- peroxisomal matrix
- Nucleus
- Mitochondria
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CRYM gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- sensory perception of sound
- negative regulation of transcription from RNA polymerase II promoter
- lysine catabolic process
- thyroid hormone metabolic process
- thyroid hormone transport
Cellular Component
Where in the cell the gene product is active
- nucleus
- extracellular vesicular exosome
- cytoplasm
- mitochondrion
- cytosol
- peroxisomal matrix
Molecular Function
What the gene product does at the molecular level
- NADP binding
- protein binding
- protein homodimerization activity
- transcription corepressor activity
- thyroid hormone binding
- thiomorpholine-carboxylate dehydrogenase activity