PROBLEM TO BE SOLVED: To provide a new gene involved in causing pain, the protein for which the gene codes, and the like.SOLUTION: The inventors performed genetic linkage analysis in a family including patients with pain in large joints of the extremities and whole genome/exome analysis in the patients, and found that a missense mutation occurs in the PSAPL1 gene of the family. In addition, they isolated Paintamide as a pain causing protein from the transcription product of the PSAPL1 gene.COPYRIGHT: (C)2015,JPO&INPIT【課題】疼痛誘発に関与する新規遺伝子、それをコードするタンパク質等を提供する。【解決手段】四肢大関節痛を有する患者家系の連鎖解析及び全ゲノムエクソーム解析を行い、当該家系においてPSAPL1遺伝子にミスセンス変異が生じることを見出した。さらに、その転写産物から、疼痛誘発タンパク質としてPaintamideを単離した。【選択図】なし