Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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

http://purl.bioontology.org/ontology/OMIM/609653.0002

http://purl.bioontology.org/ontology/OMIM/609653.0001

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

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http://purl.bioontology.org/ontology/MESH/C564021 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C537475 Medical Subject Headings CUI