CRYM encodes crystallin mu (314 aa). Catalyzes the NAD(P)H-dependent reduction of imine double bonds of a number of cyclic ketimine substrates, including sulfur-containing cyclic ketimines. Highest expression in Brain Nucleus accumbens basal ganglia (153.7 TPM) and Brain Cerebellar Hemisphere (150.5 TPM).

Autosomal dominant nonsyndromic hearing loss 40 is associated with mutations in the CRYM gene on chromosome 16.

The CRYM protein participates in CRYM reduces P2C to PPCA pathway.

CRYM is classified as a druggable target (Enzyme and Nuclear Hormone Receptor categories) with score 0.0.

Genetic testing for CRYM is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for autosomal dominant nonsyndromic hearing loss 40 has been reported in the published literature.

Phenotype severity distribution: 1 always present feature.

No clinical trials have been registered for autosomal dominant nonsyndromic hearing loss 40.

11 publications have been identified in PubMed for autosomal dominant nonsyndromic hearing loss 40. Research spans Case Report / Case Series (36%), Basic Science / Preclinical (27%), and Epidemiology / Natural History (18%).

Recent Publications

• Peng LT (2026). [PMID: 41351289](https://pubmed.ncbi.nlm.nih.gov/41351289/). *J Clin Lab Anal*. [Basic Science / Preclinical]

• Gong GQ (2025). [PMID: 40052770](https://pubmed.ncbi.nlm.nih.gov/40052770/). *Mol Genet Genomic Med*. [Case Report / Case Series]

• Wu KL (2025). [PMID: 40413265](https://pubmed.ncbi.nlm.nih.gov/40413265/). *Sci Rep*. [Case Report / Case Series]

• Machado T (2025). [PMID: 39806488](https://pubmed.ncbi.nlm.nih.gov/39806488/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]

• Arif AR (2025). [PMID: 39672236](https://pubmed.ncbi.nlm.nih.gov/39672236/). *J Thromb Haemost*. [Epidemiology / Natural History]

• Valenciaga A (2025). [PMID: 39822657](https://pubmed.ncbi.nlm.nih.gov/39822657/). *JCEM Case Rep*. [Case Report / Case Series]

• Daenen M (2025). [PMID: 39837581](https://pubmed.ncbi.nlm.nih.gov/39837581/). *Nephrol Dial Transplant*. [Basic Science / Preclinical]

• Yu S (2024). [PMID: 39720982](https://pubmed.ncbi.nlm.nih.gov/39720982/). *Mol Genet Genomics*. [Basic Science / Preclinical]

• Zhang L (2024). [PMID: 39556694](https://pubmed.ncbi.nlm.nih.gov/39556694/). *Adv Sci (Weinh)*. [Review / Meta-Analysis]

• Niehues T (2024). [PMID: 39381601](https://pubmed.ncbi.nlm.nih.gov/39381601/). *Allergol Select*. [Diagnostic / Biomarker]