HNRNPDL encodes heterogeneous nuclear ribonucleoprotein D like (420 aa). Acts as a transcriptional regulator. Promotes transcription repression. Promotes transcription activation in differentiated myotubes. Binds to double- and single-stranded DNA sequences. Highest expression in Ovary (308.8 TPM) and Uterus (294.6 TPM).

Autosomal dominant limb-girdle muscular dystrophy type 1G is associated with mutations in the HNRNPDL gene on chromosome 4.

The HNRNPDL protein participates in Expression of Heterogeneous nuclear ribonucleoprotein D-like and Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation pathways.

HNRNPDL is classified as a druggable target with score 0.0.

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

Biomarker and diagnostic research for autosomal dominant limb-girdle muscular dystrophy type 1G has been reported in the published literature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

3 publications have been identified in PubMed for autosomal dominant limb-girdle muscular dystrophy type 1G. Research spans Diagnostic / Biomarker (33%), Review / Meta-Analysis (33%), and Epidemiology / Natural History (33%).

Recent Publications

• Rahmuni Y (2026). [PMID: 41742649](https://pubmed.ncbi.nlm.nih.gov/41742649/). *Mol Genet Genomic Med*. [Diagnostic / Biomarker]

• Demicheli E (2025). [PMID: 40878969](https://pubmed.ncbi.nlm.nih.gov/40878969/). *Eur J Neurol*. [Epidemiology / Natural History]

• Politano L (2024). [PMID: 38791328](https://pubmed.ncbi.nlm.nih.gov/38791328/). *Int J Mol Sci*. [Review / Meta-Analysis]