WDHD1
Description
The WDHD1 (WD repeat and HMG-box DNA binding protein 1) is a protein-coding gene located on chromosome 14.
WD repeat and HMG-box DNA binding protein 1 is a protein in humans that is encoded by the WDHD1 gene. The protein contains multiple N-terminal WD40 domains and a C-terminal high mobility group (HMG) box. WD40 domains are found in a variety of eukaryotic proteins and may function as adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. Alternative splicing results in two transcript variants encoding different isoforms.
WDHD1 is a crucial component of the replisome, acting as a replication initiation factor. It directly binds to the CMG complex, serving as a hub to recruit additional proteins to the replication fork.
WDHD1 is also known as AND-1, AND1, CHTF4, CTF4.
Associated Diseases
- Parkinson disease
- multiple sclerosis
- Alzheimer disease
- lysosomal storage disease
- cancer
- Crigler-Najjar syndrome type 2
- isolated asymptomatic elevation of creatine phosphokinase
- plasma fibronectin deficiency
- pentosuria
