TECR

Chr 19AR

trans-2,3-enoyl-CoA reductase

NCBI Gene: 9524 ENSG00000099797 UniProt: Q9NZ01 OMIM: 610057

TECR encodes an endoplasmic reticulum enzyme that catalyzes the final reduction step in very long-chain fatty acid elongation, converting trans-2,3-enoyl-CoA to saturated acyl-CoA for sphingolipid synthesis and membrane lipid production. Biallelic mutations cause autosomal recessive intellectual developmental disorder, also known as intellectual developmental disorder, autosomal recessive 14. This condition follows autosomal recessive inheritance and has a GeneReviews entry available for additional clinical guidance.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Involved in both the production of very long-chain fatty acids for sphingolipid synthesis and the degradation of the sphingosine moiety in sphingolipids through the sphingosine 1-phosphate metabolic pathway (PubMed:25049234). Catalyzes the last of the four reactions of the long-chain fatty acids elongation cycle (PubMed:12482854). This endoplasmic reticulum-bound enzymatic process, allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle (PubMed:12482854). This enzyme reduces the trans-2,3-enoyl-CoA fatty acid intermediate to an acyl-CoA that can be further elongated by entering a new cycle of elongation (PubMed:12482854). Thereby, it participates in the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators (PubMed:12482854). Catalyzes the saturation step of the sphingosine 1-phosphate metabolic pathway, the conversion of trans-2-hexadecenoyl-CoA to palmitoyl-CoA (PubMed:25049234)

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Intellectual developmental disorder, autosomal recessive 14MIM #614020

Clinical highlights

Gene-disease validity (ClinGen)

intellectual disability · ARLimitednot for standalone diagnostic reporting

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.53

LOEUF

Multiple*

Mechanism· predicted