TOPRS Polyclonal Antibody, 100ul Centrifuge Tube (Bottle) Mutations in this gene have

Mutations in this gene have been associated with microencephaly| cortical malformations| and mental retardation

but is not expressed in differentiated cells

including breast cancer and possibly Alzheimer's disease

2000 [PubMed 10888605])

This region is duplicated elsewhere in the human genome

TOPRS Polyclonal Antibody, 100ul Centrifuge Tube (Bottle) Mutations in this gene haveThis gene encodes a nuclear protein which is serine and arginine rich, and contains a RING type zinc finger domain. It is highly expressed in the testis, and functions as an ubiquitin protein E3 ligase. Mutations in this gene are associated with retinitis pigmentosa type 31. Alternatively spliced transcript variants, encoding different isoforms, have been observed for this locus.