NAXD
entrez
55739
canonical
uniprot
Q8IW45
canonical
ensembl
ENSG00000213995
resolver
ensp
ENSP00000311984
resolver
ensp
ENSP00000413191
resolver
ensp
ENSP00000504986
resolver
ensp
ENSP00000505619
resolver
enst
ENST00000680254
resolver
genesymbol
NAXD
resolver
genesymbol_syn
CARKD
resolver
hgnc
HGNC:25576
resolver
uniprot
A0A7P0T9D8
resolver
uniprot
B4DXT4
resolver
uniprot
Q5T9X3
resolver
uniprot
Q9H7W1
resolver
uniprot
Q9NVF5
resolver
uniprot_entry
A0A7P0T9D8_HUMAN
resolver
uniprot_entry
NNRD_HUMAN
resolver
uniprot_sec
B4DXT4
resolver
uniprot_sec
Q5T9X3
resolver
uniprot_sec
Q9H7W1
resolver
uniprot_sec
Q9NVF5
resolver
amino_acid_sequence
MVTRAGAGTAVAGAVVVALLSAALALYGPPLDAVLERAFSLRKAHSIKDMENTLQLVRNIIPPLSSTKHKGQDGRIGVVGGCQEYTGAPYFAAISALKVGADLSHVFCASAAAPVIKAYSPELIVHPVLDSPNAVHEVEKWLPRLHALVVGPGLGRDDALLRNVQGILEVSKARDIPVVIDADGLWLVAQQPALIHGYRKAVLTPNHVEFSRLYDAVLRGPMDSDDSHGSVLRLSQALGNVTVVQKGERDILSNGQQVLVCSQEGSSRRCGGQGDLLSGSLGVLVHWALLAGPQKTNGSSPLLVAAFGACSLTRQCNHQAFQKHGRSTTTSDMIAEVGAAFSKLFET
uniprot
proteins
disease_involvement
DISEASE: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 (PEBEL2) [MIM:618321]: An autosomal recessive severe neurometabolic disorder characterized by severe leukoencephalopathy usually associated with a trivial febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures. Disease course is rapidly progressive, leading to coma, global brain atrophy, and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions. {ECO:0000269|PubMed:30576410}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
4.2.1.93
uniprot
proteins
function
FUNCTION: Catalyzes the dehydration of the S-form of NAD(P)HX at the expense of ATP, which is converted to ADP. Together with NAD(P)HX epimerase, which catalyzes the epimerization of the S- and R-forms, the enzyme allows the repair of both epimers of NAD(P)HX, a damaged form of NAD(P)H that is a result of enzymatic or heat-dependent hydration. {ECO:0000255|HAMAP-Rule:MF_03157, ECO:0000269|PubMed:30576410}.
uniprot
proteins
mass_dalton
36576
uniprot
proteins
protein_family
NnrD/CARKD family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057823
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
30576410
uniprot
proteins
sequence_length
347
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000255|HAMAP-Rule:MF_03157}.
uniprot
proteins