PPT2-EGFL8
Description
The PPT2-EGFL8 (PPT2-EGFL8 readthrough (NMD candidate)) is a ncRNA gene located on chromosome 6.
The PPT2-EGFL8 fusion gene is a rare genetic anomaly resulting from a chromosomal translocation. This fusion gene, responsible for a rare disorder, combines the phosphatase domain of the PPT2 gene with the EGFL8 gene, leading to a unique fusion protein with potential roles in both phosphate metabolism and extracellular matrix interactions.
The PPT2-EGFL8 fusion gene, a result of a chromosomal translocation, is associated with a rare genetic disorder characterized by developmental abnormalities and intellectual disability. This fusion gene produces a chimeric protein, combining the phosphatase domain of PPT2 with the EGFL8 domain. While the precise function of the fusion protein remains elusive, its unique structure suggests potential involvement in cellular processes related to both phosphate metabolism and extracellular matrix interactions.
PPT2-EGFL8 is also known as PPT-2, PPT2.
Associated Diseases
- type 2 diabetes mellitus
- acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
- aceruloplasminemia
- hypouricemia, renal, 2
- hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2
- ataxia-pancytopenia syndrome
