ZNF512B was originally identified as KIAA1196 in the Kazusa human cDNA sequencing project and was shown to be involved in cell differentiation and embryonic development. ZNF512B gene is located on chromosome 20q13.33. Similar to other transcription factors, ZNF512B is expressed in many tissues, including the brain and spinal cord. A single-nucleotide polymorphism (SNP) rs2275294 in the ZNF512B gene is significantly associated with susceptibility to amyotrophic lateral sclerosis (ALS) in the Japanese population. ZNF512B gene is a prognostic factor for ALS, independent of gender, age, time from onset to diagnosis, site of symptom onset (bulbar/spinal cord), and treatment with riluzole.