Preferred Name |
NADH DEHYDROGENASE (UBIQUINONE) COMPLEX I, ASSEMBLY FACTOR 2 |
Synonyms |
MITOCHONDRIAL COMPLEX I DEFICIENCY |
ID |
http://purl.bioontology.org/ontology/OMIM/609653 |
altLabel |
MITOCHONDRIAL COMPLEX I DEFICIENCY NDUFAF2 B17.2-LIKE MIMITIN NDUFA12L NADH DEHYDROGENASE 1 ALPHA SUBCOMPLEX, ASSEMBLY FACTOR 2 MYC-INDUCED MITOCHONDRIAL PROTEIN NDUFA12-LIKE B17.2L MMTN LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY |
cui |
C1838979 C1838951 C1826392 |
Gene Locus |
5q12.1 |
Gene Symbol |
NDUFAF2 NDUFA12L B17.2L MMTN |
Has allelic variant | |
MIMTYPEMEANING |
Gene with known sequence |
notation |
609653 |
OMIM Entry Type |
1 |
OMIM MimType Value |
star |
prefLabel |
NADH DEHYDROGENASE (UBIQUINONE) COMPLEX I, ASSEMBLY FACTOR 2 |
tui |
T028 T047 |
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://purl.bioontology.org/ontology/MESH/C564021 | Medical Subject Headings | CUI | |
http://purl.bioontology.org/ontology/MESH/C537475 | Medical Subject Headings | CUI |