Synthesized peptide derived from the Internal region of human PMS2. Location: 430-510aa.
Alternative Synonym:
MLH4, PMSL2, HNPCC4, MMRCS4, PMS2CL
This gene is one of the PMS2 gene family members found in clusters on chromosome 7. The product of this gene is involved in DNA mismatch repair. It forms a heterodimer with MLH1 and this complex interacts with other complexes bound to mismatched bases. Mutations in this gene are associated with hereditary nonpolyposis colorectal cancer, Turcot syndrome, and are a cause of supratentorial primitive neuroectodermal tumors. Alternatively spliced transcript variants have been observed for this gene.
