EBP across dismech

EBP (EBP cholestenol delta-isomerase) is named by 2 disorder entries.

Normal function

ai-gene-review gives EBP's core molecular function as C-8 sterol isomerase activity, acting in cholesterol biosynthetic process. That molecular-function term is defined in GO on the fungal fecosterol to episterol reaction; the upstream EBP review is being revised to use cholestenol delta-isomerase activity (EC 5.3.3.5, lathosterol from 5alpha-cholest-8-en-3beta-ol), which is the reaction human EBP performs and the term both disorder entries now use. The ingested summary will follow once it is refreshed.

Causative records

Two entries type EBP as causative: MEND Syndrome; and X-linked Chondrodysplasia Punctata 2, and both record the variants as germline (MEND Syndrome; and X-linked Chondrodysplasia Punctata 2). They differ in how much enzyme survives. X-linked Chondrodysplasia Punctata 2 records the variant's impact as loss of function, on the node EBP Sterol-Delta8-Isomerase Deficiency; MEND Syndrome records it as partial loss of function, on the node Hypomorphic Non-Mosaic EBP Variant.

ClinGen rates EBP definitive for MEND syndrome.

Where the layers agree

The KB's EBP nodes and ai-gene-review share the process cholesterol biosynthetic process by exact GO identifier.