ðə kˈɔːz ʌvðə dɪzˈiːz ɪz ɐ hˈæplɔɪnsəfˌɪʃənsi ʌvðɪ ˈɛnzaɪm ˌeɪtˌiːpˈiː tˈuː sˈiː wˈʌn; ðɪ ˌeɪtˌiːpˈiː tˈuː sˈiː wˈʌn dʒˈiːn ɪz loʊkˈeɪɾᵻd ˌɔn kɹˈoʊməsˌoʊm θɹˈiː, wˌɪtʃ ɛŋkˈoʊdz ðə pɹˈoʊtiːn ˈeɪtʃ ˌɛspˌiːsˌiːˈeɪ wˈʌn.
The cause of the disease is a haploinsufficiency of the enzyme ATP2C1; the ATP2C1 gene is located on chromosome 3, which encodes the protein hSPCA1.