NNTM_HUMAN
Source:
PM23856902
Marked as 'Integral membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
NNT
Protein names and data:
NNTM_HUMAN
, NAD(P) transhydrogenase, mitochondrial; 1.6.1.2
, Nicotinamide nucleotide transhydrogenase; Pyridine nucleotide transhydrogenase; Flags: Precursor
Lenght: 1086 a.a.
Mass: 113896 Da
fasta formatted sequence
Function:
The transhydrogenation between NADH and NADP is coupled to respiration and ATP hydrolysis and functions as a proton pump across the membrane. May play a role in reactive oxygen species (ROS) detoxification in the adrenal gland.
Catalytic activity:
NADPH + NAD(+) = NADP(+) + NADH.
Disease:
( OMIM:
607878
614736
)
Glucocorticoid deficiency 4 (GCCD4) [MIM:614736]: A rare, potentially lethal, autosomal recessive disorder characterized by resistance to ACTH action on the adrenal cortex, adrenal insufficiency and an inability of the adrenal cortex to produce cortisol. It usually presents in the neonatal period or in early childhood with episodes of hypoglycemia and other symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, convulsions, and shock. In a small number of patients hypoglycemia can be sufficiently severe and persistent that it leads to serious long-term neurological damage or death. The diagnosis is readily confirmed with a low plasma cortisol measurement in the presence of an elevated ACTH level, and normal aldosterone and plasma renin measurements. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Mitochondrion inner membrane; Multi-pass membrane protein; Matrix side (Potential).
Tissue specificity:
Widely expressed with expression most readily detectable in adrenal, heart, kidney, thyroid and adipose tissues.
Genetic variants
193 - 193
S -> N (in GCCD4). VAR_068781
357 - 357
T -> A (in GCCD4). VAR_068782
365 - 365
H -> P (in GCCD4). VAR_068783
437 - 437
P -> L (in GCCD4). VAR_068784
533 - 533
A -> V (in GCCD4). VAR_068785
664 - 664
G -> R (in GCCD4). VAR_068786
678 - 678
G -> R (in GCCD4). VAR_068787
862 - 862
G -> D (in GCCD4). VAR_068788
977 - 977
L -> P (in GCCD4). VAR_068789
1008 - 1008
A -> P (in GCCD4). VAR_068790
1009 - 1009
N -> K (in GCCD4). VAR_068791
Database cross-references
UniProt:
Q13423
Ensembl:
ENST00000264663
Ensembl:
ENST00000344920
MIM:
607878
MIM:
614736
neXtProt:
NX_Q13423
Antibodypedia:
Q13423
(may not find the protein thus also not any antibody)
Local full text data:
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