ZNF81encodes a protein that likely functions as a transcription factor. The protein contains an N-terminal KRAB domain and several C2H2-type zinc finger motifs. Mutations in this gene cause mental retardation X-linked type 45 (MRX45).
Kleefstra et al. (2004) characterized the breakpoints of a de novo translocation, t(X;9)(p11.23;q34.3), in a female patient with severe mental retardation and found that the translocation disrupted the ZNF81 gene. Mutation analysis in more than 300 families and patients with nonspecific X-linked mental retardation revealed a ser179-to-asn substitution in ZNF81 in family MRX45, reported by Hamel et al. (1999), that fully segregated with the phenotype. Kleefstra et al. (2004) suggested that mutation in the ZNF81 gene may be a rare cause of nonspecific X-linked mental retardation.
Organism species: Homo sapiens (Human)
CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
Proteins | n/a | Recombinant Zinc Finger Protein 81 (ZNF81) | Recombinant Protein Customized Service Offer |
Antibodies | n/a | Monoclonal Antibody to Zinc Finger Protein 81 (ZNF81) | Monoclonal Antibody Customized Service Offer |
n/a | Polyclonal Antibody to Zinc Finger Protein 81 (ZNF81) | Polyclonal Antibody Customized Service Offer | |
Assay Kits | n/a | CLIA Kit for Zinc Finger Protein 81 (ZNF81) | CLIA Kit Customized Service Offer |
n/a | ELISA Kit for Zinc Finger Protein 81 (ZNF81) | ELISA Kit Customized Service Offer |
- "Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation."J. Med. Genet. 41:394-399(2004) [PubMed] [Europe PMC] [Abstract]
- "The DNA sequence of the human X chromosome." Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
- "A novel X-linked member of the human zinc finger protein gene family: isolation, mapping, and expression."Mamm. Genome 4:252-257(1993) [PubMed] [Europe PMC] [Abstract]