| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:comment |
FUNCTION: Active toward esters of long-chain and very long chain fatty acids such as palmitoyl-CoA, mysritoyl-CoA and stearoyl-CoA. Can accommodate substrate acyl chain lengths as long as 24 carbons, but shows little activity for substrates of less than 12 carbons. CATALYTIC ACTIVITY: Acyl-CoA + acceptor = 2,3-dehydroacyl-CoA + reduced acceptor. COFACTOR: FAD. PATHWAY: Lipid metabolism; mitochondrial fatty acid beta- oxidation. SUBUNIT: Homodimer. SUBCELLULAR LOCATION: Mitochondrion inner membrane. ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P49748-1; Sequence=Displayed; Name=2; IsoId=P49748-2; Sequence=VSP_007734; Note=No experimental confirmation available; DISEASE: Defects in ACADVL are the cause of acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) [MIM:201475]. ACADVLD is an autosomal recessive disease which leads to impaired long-chain fatty acid beta-oxidation. It is clinically heterogeneous, with three major phenotypes: a severe childhood form, with early onset, high mortality, and high incidence of cardiomyopathy; a milder childhood form, with later onset, usually with hypoketotic hypoglycemia as the main presenting feature, low mortality, and rare cardiomyopathy; and an adult form, with isolated skeletal muscle involvement, rhabdomyolysis, and myoglobinuria, usually triggered by exercise or fasting. MISCELLANEOUS: A number of straight-chain acyl-CoA dehydrogenases of different substrate specificities are present in mammalian tissues. SIMILARITY: Belongs to the acyl-CoA dehydrogenase family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ACADVL"; GENE SYNONYMS:ACADVL VLCAD. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 655 AA; 70390 MW; A5594D1EA7911D19 CRC64;
|
| biopax3:xref |
urn:biopax:RelationshipXref:HGNC_HGNC:92,
urn:biopax:RelationshipXref:NCBI GENE_37,
urn:biopax:RelationshipXref:REFSEQ_NP_000009,
urn:biopax:RelationshipXref:REFSEQ_NP_001029031,
urn:biopax:UnificationXref:UNIPROT_O76056,
urn:biopax:UnificationXref:UNIPROT_P49748,
urn:biopax:UnificationXref:UNIPROT_Q8WUL0
|
| biopax3:displayName |
ACADV_HUMAN
|
| biopax3:name |
1.3.99.-,
ACADVL,
VLCAD
|
| biopax3:entityFeature | |
| biopax3:organism | |
| biopax3:sequence |
MQAARMAASLGRQLLRLGGGSSRLTALLGQPRPGPARRPYAGGAAQLALDKSDSHPSDALTRKKPAKAESKSFAVGMFKGQLTTDQVFPYPSVLNEEQTQFLKELVEPVSRFFEEVNDPAKNDALEMVEETTWQGLKELGAFGLQVPSELGGVGLCNTQYARLVEIVGMHDLGVGITLGAHQSIGFKGILLFGTKAQKEKYLPKLASGETVAAFCLTEPSSGSDAASIRTSAVPSPCGKYYTLNGSKLWISNGGLADIFTVFAKTPVTDPATGAVKEKITAFVVERGFGGITHGPPEKKMGIKASNTAEVFFDGVRVPSENVLGEVGSGFKVAMHILNNGRFGMAAALAGTMRGIIAKAVDHATNRTQFGEKIHNFGLIQEKLARMVMLQYVTESMAYMVSANMDQGATDFQIEAAISKIFGSEAAWKVTDECIQIMGGMGFMKEPGVERVLRDLRIFRIFEGTNDILRLFVALQGCMDKGKELSGLGSALKNPFGNAGLLLGEAGKQLRRRAGLGSGLSLSGLVHPELSRSGELAVRALEQFATVVEAKLIKHKKGIVNEQFLLQRLADGAIDLYAMVVVLSRASRSLSEGHPTAQHEKMLCDTWCIEAAARIREGMAALQSDPWQQELYRNFKSISKALVERGGVVTSNPLGF
|
| biopax3:standardName |
Very long-chain specific acyl-CoA dehydrogenase, mitochondrial
|