GNPAT

Chr 1AR

glyceronephosphate O-acyltransferase

Also known as: DAP-AT, DAPAT, DHAPAT, RCDP2

NCBI Gene: 8443 ENSG00000116906 UniProt: O15228 OMIM: 602744

The protein functions as dihydroxyacetonephosphate acyltransferase, catalyzing the first step in plasmalogen biosynthesis within peroxisomal membranes. Mutations cause rhizomelic chondrodysplasia punctata type 2, a severe disorder affecting skeletal development, growth, and neurological function. Inheritance is autosomal recessive.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes an enzyme located in the peroxisomal membrane which is essential to the synthesis of ether phospholipids. Mutations in this gene are associated with rhizomelic chondrodysplasia punctata. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Rhizomelic chondrodysplasia punctata, type 2MIM #222765

Clinical highlights

Gene-disease validity (ClinGen)

glyceronephosphate O-acyltransferase deficiency · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.42

LOEUF

LOF

Mechanism· G2P