Gene: nicotinamide nucleotide transhydrogenase; NNT


Gene Symbol: NNT
OMIM: 607878
Chromosome location: 5p12

Related informations:  NCBI Gene  Genome Browser  Ensembl  UniProt  GeneCards  Kyoto Encyclopedia  BioGPS  HGNC  HPRD  

Glucocorticoid deficiency 4 || c.598 G>A

Phenotype:    Glucocorticoid deficiency 4
Dna Change:    c.598 G>A
Protein Change:    p.Gly200Ser
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 4
Transcript:    NM_012343.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
PalestineNANA3 patient/ 2 unrelated familiesNAWeinberg-Shukron A et al., 2015Weinberg-Shukron A, Abu-Libdeh A, Zhadeh F, Carmel L, Kogot-Levin A, Kamal L, Kanaan M, Zeligson S, Renbaum P, Levy-Lahad E, Zangen D, . Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress.. J. Med. Genet.. 2015; 0(0):

References

Weinberg-Shukron A, Abu-Libdeh A, Zhadeh F, Carmel L, Kogot-Levin A, Kamal L, Kanaan M, Zeligson S, Renbaum P, Levy-Lahad E, Zangen D, Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress.J. Med. Genet.. 2015; 0(0):