ANKHD1-EIF4EBP3
Description
The ANKHD1-EIF4EBP3 (ANKHD1-EIF4EBP3 readthrough) is a protein-coding gene located on chromosome 5.
ANKHD1-EIF4EBP3 is a fusion gene resulting from a chromosomal rearrangement that combines portions of the ANKHD1 and EIF4EBP3 genes. This fusion gene produces a chimeric protein that incorporates features from both parental genes, the exact functional consequence of this fusion protein is currently unknown and requires further research. It is hypothesized to play a role in cellular processes regulated by both ANKHD1 and EIF4EBP3, potentially affecting cell growth, proliferation, and translation.
ANKHD1-EIF4EBP3 is a fusion gene, resulting from a chromosomal rearrangement that combines parts of the ANKHD1 and EIF4EBP3 genes. This fusion gene produces a chimeric protein that incorporates features from both parental genes. The exact functional consequence of this fusion protein is currently unknown and requires further research. It is hypothesized to play a role in cellular processes regulated by both ANKHD1 and EIF4EBP3, potentially affecting cell growth, proliferation, and translation.
ANKHD1-EIF4EBP3 is also known as MASK-BP3, MASK-BP3ARF.
Associated Diseases
- hyperinsulinism due to INSR deficiency
- hyperinsulinism due to glucokinase deficiency
- exercise-induced hyperinsulinism
- hyperinsulinism-hyperammonemia syndrome
- isolated asymptomatic elevation of creatine phosphokinase
- pentosuria
- hyperinsulinemic hypoglycemia, familial, 4
- hyperinsulinemic hypoglycemia, familial, 1
- autosomal recessive hyperinsulinism due to Kir6.2 deficiency
- islet cell adenomatosis
- hyperinsulinemic hypoglycemia, familial, 2
