Targeting PKHD1 for PFIC Treatment (G5314)

Target Name: PKHD1

NCBI ID: G5314

Targeting PKHD1 for PFIC Treatment

PKHD1 is a gene that has been identified as a potential drug target for the treatment of polycystic kidney and hepatic disease 1 (autosomal recessive), also known as progressive familial intrahepatic cholestasis (PFIC). This genetic disorder affects the development and progression of progressive liver and kidney disease in individuals with a family history of the condition.

PKHD1 is a non-coding RNA gene that is located on chromosome 16. It is a member of the PRKD gene family, which includes proteins that are involved in a variety of cellular processes, including DNA replication, gene expression, and inflammation. The PKHD1 gene has been shown to be involved in the development and progression of PFIC in individuals with a family history of the condition.

One of the key challenges in the treatment of PFIC is the lack of effective therapies that can slow the progression of liver and kidney disease. While there are currently several treatments available for managing the symptoms of PFIC, there is a significant need for new and more effective therapies that can slow the progression of the disease and improve quality of life.

The potential drug target for PKHD1 is based on the idea that the gene is involved in the development and progression of PFIC. By targeting PKHD1 with a small molecule or drug, it is possible to slow the progression of liver and kidney disease and improve symptoms.

One approach to targeting PKHD1 is to use small molecules that can inhibit the activity of the gene. This is an approach that has been used to treat a variety of genetic disorders, including some forms of cancer. By inhibiting the activity of PKHD1, it is possible to slow the progression of PFIC and reduce the symptoms associated with the disease.

Another approach to targeting PKHD1 is to use drugs that can modify the expression of the gene. This is an approach that has been used to treat a variety of genetic disorders, including some forms of cancer. By modifying the expression of PKHD1, it is possible to reduce the amount of the gene that is produced and slow the progression of PFIC.

While the potential drug targets for PKHD1 are still being explored, it is clear that this gene is an important player in the development and progression of PFIC. By targeting PKHD1 with small molecules or drugs, it is possible to slow the progression of liver and kidney disease and improve symptoms in individuals with a family history of the condition.

Protein Name: PKHD1 Ciliary IPT Domain Containing Fibrocystin/polyductin

Functions: Promotes ciliogenesis in renal epithelial cells and therefore participates in the tubules formation and/ or ensures the maintenance of the architecture of the lumen of the kidney (By similarity). Has an impact on cellular symmetry by ensuring correct bipolar cell division through the regulation of centrosome duplication and mitotic spindle assembly and by maintaining oriented cell division (OCD) during tubular elongation through planar cell polarity (PCP) pathway (PubMed:20554582). During epithelial cell morphogenesis regulates also cell-cell and cell-matrix adhesion and participates in cell motility (By similarity). Promotes cell-cell contact through the positive regulation of PTK2 kinase activity leading to either positive regulation of epithelial cell proliferation through the HRAS/RAF1 pathways, or negative regulation of apoptosis through the PDK1/AKT1 pathway (By similarity). May act in collecting-duct and biliary differentiation (PubMed:11919560). May participate in the regulation of the cholangiocytes proliferation and the CCN2 production in an CXCL8-dependent manner (PubMed:30898581)

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