ECHA_HUMAN
Source:
BSc_CH
Marked as 'Non-membrane protein'
Confidence:
medium (present in either hRBCD or BSc_CH or PM22954596)
Search PubMed for
(RBC AND this entry)
Gene names:
HADHA
, HADH
Protein names and data:
ECHA_HUMAN
, Trifunctional enzyme subunit alpha, mitochondrial
, 78 kDa gastrin-binding protein; TP-alpha; Long-chain enoyl-CoA hydratase; 4.2.1.17; Long chain 3-hydroxyacyl-CoA dehydrogenase; 1.1.1.211; Flags: Precursor
Lenght: 763 a.a.
Mass: 83000 Da
fasta formatted sequence
Function:
Bifunctional subunit.
Catalytic activity:
(3S)-3-hydroxyacyl-CoA = trans-2(or 3)-enoyl- CoA + H(2)O. A long-chain (S)-3-hydroxyacyl-CoA + NAD(+) = a long-chain 3-oxoacyl-CoA + NADH.
Pathway:
Lipid metabolism; fatty acid beta-oxidation.
Disease:
( OMIM:
600890
609015
609016
)
Trifunctional protein deficiency (TFP deficiency) [MIM:609015]: The clinical manifestations are very variable and include hypoglycemia, cardiomyopathy and sudden death. Phenotypes with mainly hepatic and neuromyopathic involvement can also be distinguished. Biochemically, TFP deficiency is defined by the loss of all three enzyme activities of the TFP complex. Note=The disease is caused by mutations affecting the gene represented in this entry. Long-chain 3-hydroxyl-CoA dehydrogenase deficiency (LCHAD deficiency) [MIM:609016]: The clinical features are very similar to TFP deficiency. Biochemically, LCHAD deficiency is characterized by reduced long-chain 3-hydroxyl-CoA dehydrogenase activity, while the other enzyme activities of the TFP complex are normal or only slightly reduced. Note=The disease is caused by mutations affecting the gene represented in this entry. Maternal acute fatty liver of pregnancy (AFLP) [MIM:609016]: Severe maternal illness occurring during pregnancies with affected fetuses. This disease is associated with LCHAD deficiency and characterized by sudden unexplained infant death or hypoglycemia and abnormal liver enzymes (Reye-like syndrome). Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Mitochondrion.
Genetic variants
282 - 282
V -> D (in TFP deficiency; mild phenotype with slowly progressive myopathy and sensorimotor polyneuropathy). VAR_021125
305 - 305
I -> N (in TFP deficiency; mild phenotype with slowly progressive myopathy and sensorimotor polyneuropathy). VAR_021126
342 - 342
L -> P (in LCHAD deficiency). VAR_021127
358 - 358
Q -> K (in dbSNP:rs10200182). VAR_048908
10200182
510 - 510
E -> Q (in AFLP and LCHAD deficiency; loss of activity; dbSNP:rs137852769). VAR_002273
137852769
Database cross-references
UniProt:
P40939
Ensembl:
ENST00000380649
MIM:
600890
MIM:
609015
MIM:
609016
neXtProt:
NX_P40939
Antibodypedia:
P40939
(may not find the protein thus also not any antibody)
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