LPIN1 across dismech

LPIN1 (lipin 1) is named by 1 disorder entry, LPIN1-Related Recurrent Myoglobinuria.

Normal function

ai-gene-review gives lipin-1's core molecular function as phosphatidate phosphatase activity, acting in triglyceride biosynthetic process; and phosphatidylethanolamine metabolic process at the endoplasmic reticulum membrane.

Causative record

The entry types LPIN1 as causative with a germline variant origin, and ClinGen rates the pair definitive. The gene sits on the node Biallelic LPIN1 Loss of Function, whose decreased activity is the same phosphatidate phosphatase activity the review names as the normal function.

Where the layers meet

The LPIN1 node is annotated with a molecular function rather than a process, so the KB and the review share 0 process terms by exact identifier; the agreement is at the molecular-function level.