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MECR

mitochondrial trans-2-enoyl-CoA reductase

HCNC Approved Symbol
MECR (HGNC:19691)
Genomic Coordinates
1:29,167,696 - 29,230,934 (1p35.3)
Synonyms
CGI-63, NRBF1, FASN2B, ETR1
Disease Associations
This gene is associated with the following 2 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
617282AR
Optic atrophy 16
620629AR

Diagnosed Cases

0Patient

There are no patients diagnosed with a variant in the MECR gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

No Results