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.
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.