ANKHD1
Description
The ANKHD1 (ankyrin repeat and KH domain containing 1) is a protein-coding gene located on chromosome 5.
The ANKHD1 gene encodes a protein containing multiple ankyrin repeat domains and a single KH domain. Co-transcription with the neighboring EIF4EBP3 gene produces a fusion transcript (MASK-BP3), resulting in a protein combining the MASK sequence with a distinct C-terminus due to an alternate reading frame for EIF4EBP3 segments.
ANKHD1 may act as a scaffolding protein, potentially contributing to the abnormal characteristics of leukemia cells. Isoform 2 exhibits anti-apoptotic properties, safeguarding cells during normal survival by regulating caspases.
ANKHD1 is also known as MASK, MASK1, PP2500, VBARP.
Associated Diseases
- hyperinsulinism due to INSR deficiency
- hyperinsulinism due to glucokinase deficiency
- cancer
- 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
