abnormal mitochondrial crista morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Any of the inward folds of the mitochondrial inner membrane; crista number, extent, and shape differ in mitochondria from different tissues and organisms; crista appear to be devices for increasing the surface area of the mitochondrial inner membrane, where the enzymes of electron transport and oxidative phosphorylation are found; the shape can vary with the respiratory state of the mitochondria (Mammalian Phenotype Ontology, MP_0011635)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0011635
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22 gene mutations causing the abnormal mitochondrial crista morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADGRG6 adhesion G protein-coupled receptor G6
CD44 CD44 molecule (Indian blood group)
CHDH choline dehydrogenase
CISD2 CDGSH iron sulfur domain 2
CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit
HPRT1 hypoxanthine phosphoribosyltransferase 1
HSPD1 heat shock 60kDa protein 1 (chaperonin)
MPV17 MpV17 mitochondrial inner membrane protein
MUC2 mucin 2, oligomeric mucus/gel-forming
NDUFA13 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NOA1 nitric oxide associated 1
OPA1 optic atrophy 1 (autosomal dominant)
PEX13 peroxisomal biogenesis factor 13
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
POLG2 polymerase (DNA directed), gamma 2, accessory subunit
RNASEH1 ribonuclease H1
SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1
TFAM transcription factor A, mitochondrial
TK2 thymidine kinase 2, mitochondrial
TYK2 tyrosine kinase 2
VCP valosin containing protein