ACOX2
entrez
8309
canonical
uniprot
Q99424
canonical
ensembl
ENSG00000168306
resolver
ensp
ENSP00000307697
resolver
ensp
ENSP00000570771
resolver
ensp
ENSP00000570772
resolver
ensp
ENSP00000570773
resolver
ensp
ENSP00000570774
resolver
ensp
ENSP00000570776
resolver
ensp
ENSP00000570779
resolver
ensp
ENSP00000570786
resolver
ensp
ENSP00000570791
resolver
ensp
ENSP00000613444
resolver
enst
ENST00000302819
resolver
enst
ENST00000900712
resolver
enst
ENST00000900713
resolver
enst
ENST00000900714
resolver
enst
ENST00000900715
resolver
enst
ENST00000900717
resolver
enst
ENST00000900720
resolver
enst
ENST00000900727
resolver
enst
ENST00000900732
resolver
genesymbol
ACOX2
resolver
hgnc
HGNC:120
resolver
uniprot
A6NF16
resolver
uniprot
B2R8U5
resolver
uniprot
B4DPM1
resolver
uniprot_entry
ACOX2_HUMAN
resolver
uniprot_entry
B4DPM1_HUMAN
resolver
uniprot_sec
A6NF16
resolver
uniprot_sec
B2R8U5
resolver
amino_acid_sequence
MGSPVHRVSLGDTWSRQMHPDIESERYMQSFDVERLTNILDGGAQNTALRRKVESIIHSYPEFSCKDNYFMTQNERYKAAMRRAFHIRLIARRLGWLEDGRELGYAYRALSGDVALNIHRVFVRALRSLGSEEQIAKWDPLCKNIQIIATYAQTELGHGTYLQGLETEATYDAATQEFVIHSPTLTATKWWPGDLGRSATHALVQAQLICSGARRGMHAFIVPIRSLQDHTPLPGIIIGDIGPKMDFDQTDNGFLQLNHVRVPRENMLSRFAQVLPDGTYVKLGTAQSNYLPMVVVRVELLSGEILPILQKACVIAMRYSVIRRQSRLRPSDPEAKVLDYQTQQQKLFPQLAISYAFHFLAVSLLEFFQHSYTAILNQDFSFLPELHALSTGMKAMMSEFCTQGAEMCRRACGGHGYSKLSGLPSLVTKLSASCTYEGENTVLYLQVARFLVKSYLQTQMSPGSTPQRSLSPSVAYLTAPDLARCPAQRAADFLCPELYTTAWAHVAVRLIKDSVQHLQTLTQSGADQHEAWNQTTVIHLQAAKVHCYYVTVKGFTEALEKLENEPAIQQVLKRLCDLHAIHGILTNSGDFLHDAFLSGAQVDMARTAYLDLLRLIRKDAILLTDAFDFTDQCLNSALGCYDGNVYERLFQWAQKSPTNTQENPAYEEYIRPLLQSWRSKL
uniprot
proteins
disease_involvement
DISEASE: Congenital bile acid synthesis defect 6 (CBAS6) [MIM:617308]: An inborn error of bile acid synthesis characterized by abnormally increased liver enzymes, hypolipidemia and low cholesterol, vitamin D deficiency, elevated plasma and urinary levels of C27 intermediate bile acids 3alpha,7alpha-dihydroxy-5beta-cholestanoic acid (DHCA) and 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoic acid (THCA). Serum levels of phytanic and pristanic acids are normal. Clinical features include liver fibrosis, mild ataxia, delayed development, and cognitive impairment. Liver histology shows many thin fibrous septa, swollen hepatocytes, glycogenated nuclei, and focal acinar transformation, consistent with hepatocellular injury and regeneration, without signs of obvious cholestasis, cholate stasis, or steatosis. CBAS6 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269|PubMed:27647924, ECO:0000269|PubMed:27884763, ECO:0000269|PubMed:29287774}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.3.3.6
uniprot
proteins
function
FUNCTION: Involved in peroxisomal beta-oxidation of branched-chain fatty acids (BCFAs) and bile acids intermediates. Catalyzes the initial and rate-limiting dehydrogenation step that removes two hydrogen molecules and introduces a trans double bond between the alpha and beta carbons of the acyl CoA molecules while generating hydrogen peroxide as a by-product. Oxidizes its substrates in a stereospecific way and can only desaturate isomers carrying (2S)-methyl groups (By similarity) (PubMed:29287774). In brown adipose tissue peroxisomes, mediates beta-oxidation of monomethyl branched-chain fatty acids with iso configuration (mmBCFAs) as part of a substrate synthesis and oxidation cycle fueled by FASN-dependent de novo mmBCFA synthesis. The mmBCFA catabolism is coupled to AMPK activation and mitochondrial ATP production as a thermogenic adaptation mechanism to maintain the body temperature in cold environment (By similarity). Metabolizes multi-methyl-branched fatty acyl-CoA esters such as (2S)-pristanoyl-CoA, displaying redundancy with ACOX3 (PubMed:29287774). In the liver, mediates side-chain beta-oxidation of C27 bile acyl-CoA intermediates carrying a (25S)-methyl group to yield 24,25-trans unsaturated derivatives as part of peroxisomal bile acid synthesis pathway (PubMed:27884763, PubMed:29287774). Can oxidize straight-chain fatty acyl CoAs such as C10-CoA and C16-CoA with low efficiency (PubMed:29287774). {ECO:0000250|UniProtKB:Q9QXD1, ECO:0000269|PubMed:27884763, ECO:0000269|PubMed:29287774}.
uniprot
proteins
mass_dalton
76827
uniprot
proteins
pathway_participation
PATHWAY: Lipid metabolism; peroxisomal fatty acid beta-oxidation. {ECO:0000269|PubMed:29287774}.
uniprot
proteins
protein_family
Acyl-CoA oxidase family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
27647924
uniprot
proteins
pubmed
27884763
uniprot
proteins
pubmed
29287774
uniprot
proteins
pubmed
8943006
uniprot
proteins
sequence_length
681
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Peroxisome {ECO:0000269|PubMed:27884763, ECO:0000269|PubMed:8943006}.
uniprot
proteins