Heterogeneous nuclear ribonucleoprotein D-like (HNRNPDL)

Heterogeneous nuclear ribonucleoprotein D-like (HNRNPDL) is an RNA-binding protein belonging to the hnRNP family, which is ubiquitously expressed and involved in the regulation of alternative pre-mRNA splicing, mRNA stability, transport, and the assembly of ribonucleoprotein granules. HNRNPDL contains two RNA recognition motif (RRM) domains and exists as several naturally occurring isoforms due to alternative splicing, with hnRNPDL-2 being predominant in human tissues. The protein localizes to the nucleus and is involved in the formation of functional amyloid fibrils, which are non-toxic and capable of binding nucleic acids. Missense mutations in HNRNPDL are associated with limb-girdle muscular dystrophy D3 (LGMD D3), a rare hereditary disease characterized by progressive proximal muscle weakness. While amyloid formation by certain proteins is often pathological, hnRNPDL-2's amyloid structure is considered functional and may be regulated by alternative splicing of specific exons. HNRNPDL is not currently a direct therapeutic target, and no interacting drugs or clinical biomarkers are established.

Other names

hnRNP D-likehnRNP DLJKTBPJKTBP2laAUF1AU-rich element RNA-binding factorJKT41-binding proteinprotein laAUF1LGMDD3LGMD1Glimb-girdle muscular dystrophy 1G (autosomal dominant)