Zinc finger protein 699
Function
May be involved in transcriptional regulation.
Involvement in disease
DEGCAGS syndrome
DEGCAGS
An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, coarse facial features, and abnormalities of the cardiovascular, gastrointestinal, genitourinary and skeletal system. Other common features included anemia or pancytopenia, immunodeficiency and recurrent infections, and sensorineural hearing impairment. Death in childhood may occur.
None
The disease may be caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the krueppel C2H2-type zinc-finger protein family.
Cellular localization
- Nucleus
Alternative names
Zinc finger protein 699, Hangover homolog, ZNF699