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



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