Zinc Finger Protein 385B (ZNF385B)

The ZNF385B gene encodes a protein that contains 4 U1-type zinc fingers and shares 93% amino acid identity with its mouse homolog. ZNF385B is expressed in brain. Because of its putative nuclear location, Monfort et al. (2008) hypothesized a role in RNA maturation, stability, or transcription regulation.

Monfort et al. (2008) reported a 14-year-old boy with moderate mental retardation and dysmorphic features associated with a de novo 3.3-Mb interstitial deletion at chromosome 2q31.2, spanning 16 genes with ZNF385B being the most distal gene lost. The authors identified a 0.5-Mb overlapping deleted region in their patient and the patient reported by Mencarelli et al. (2007), containing only the ZNF385B gene.