mjuːtˈeɪʃənz ɪn ðɪs dʒˈiːn hɐvbɪn ɐsˈoʊsɪˌeɪɾᵻd wɪð kəndʒˈɛnɪɾəl ɪnsˌɛnsɪtˈɪvᵻɾi tə pˈeɪn wɪð ˌænhɪdɹˈoʊsɪs, sˈɛlfmjˈuːɾᵻlˌeɪɾɪŋ bᵻhˈeɪvjɚz, ˌɪntəlˈɛktʃuːəl dˌɪsɐbˈɪləɾi ænd slˈæʃ ɔːɹ kˈɑːɡnᵻtˌɪv ɪmpˈɛɹmənt ænd sˈɜːʔn̩ kˈænsɚz.
Mutations in this gene have been associated with congenital insensitivity to pain with anhidrosis, self-mutilating behaviors, intellectual disability and/or cognitive impairment and certain cancers.