LMAN2L encodes lectin, mannose binding 2 like (348 aa). May be involved in the regulation of export from the endoplasmic reticulum of a subset of glycoproteins. May function as a regulator of ERGIC-53 Highest expression in Ovary (44.3 TPM) and Cervix Endocervix (42.2 TPM).

Intellectual disability, autosomal recessive 52 is associated with mutations in the LMAN2L gene on chromosome 2.

The LMAN2L protein participates in LMAN family receptors and LMAN family proteins bind glycosylated cargo pathways.

LMAN2L is classified as a druggable target with score 0.0.

Genetic testing for LMAN2L is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 1 always present feature.

No clinical trials have been registered for intellectual disability, autosomal recessive 52.

12 publications have been identified in PubMed for intellectual disability, autosomal recessive 52. Research spans Case Report / Case Series (42%), Review / Meta-Analysis (33%), and Basic Science / Preclinical (17%).

Recent Publications

• Wang S (2025). [PMID: 40381082](https://pubmed.ncbi.nlm.nih.gov/40381082/). *Discover oncology*. [Review / Meta-Analysis]

• Shah AWA (2025). [PMID: 40813497](https://pubmed.ncbi.nlm.nih.gov/40813497/). *Molecular biology reports*. [Basic Science / Preclinical]

• Ahmad R (2025). [PMID: 40858856](https://pubmed.ncbi.nlm.nih.gov/40858856/). *Cerebellum (London, England)*. [Basic Science / Preclinical]

• Abdelhamid B (2025). [PMID: 40312603](https://pubmed.ncbi.nlm.nih.gov/40312603/). *Molecular biology reports*. [Review / Meta-Analysis]

• Wang T (2025). [PMID: 40221759](https://pubmed.ncbi.nlm.nih.gov/40221759/). *Italian journal of pediatrics*. [Case Report / Case Series]

• Ghasemi A (2025). [PMID: 38532569](https://pubmed.ncbi.nlm.nih.gov/38532569/). *The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques*. [Case Report / Case Series]

• Elmakhzen B (2024). [PMID: 39617845](https://pubmed.ncbi.nlm.nih.gov/39617845/). *Molecular biology reports*. [Case Report / Case Series]

• Ahmed AN (2024). [PMID: 39415096](https://pubmed.ncbi.nlm.nih.gov/39415096/). *BMC neurology*. [Epidemiology / Natural History]

• Hirayama H (2024). [PMID: 39206713](https://pubmed.ncbi.nlm.nih.gov/39206713/). *Glycobiology*. [Review / Meta-Analysis]

• Li M (2024). [PMID: 39175229](https://pubmed.ncbi.nlm.nih.gov/39175229/). *The Journal of international medical research*. [Case Report / Case Series]