HPS6 and amyotrophic lateral sclerosis: Among these, several have been confirmed to result in lower DCTN1 protein expression.27, 28 c.C3823T (p.R1275C) found in Patient 2 with ALS, lies within the domain (aa 911–1278) interacting with Hermansky‐Pudlak syndrome 6 protein (HPS6).29 The R1275C appearing as cytoplasmic aggregates, completely lost colocalization with microtubules.