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Gene Model: Acad8

NomenclatureGenomic Location
SymbolAcad8Chromosome2
NameAcyl-CoA dehydrogenase family, member 8Linkage mapunknown
SpeciesDracomimus familiarisGenome Coordinates2: 5 Mbp

Molecular Function

Has very high activity toward isobutyryl-CoA. Is an isobutyryl-CoA dehydrogenase that functions in valine catabolism

Isobutyryl-CoA + ETF = methylacrylyl-CoA + reduced ETF.

Molecular Function Terms:

binding
   cofactor binding
      coenzyme binding
         flavin adenine dinucleotide binding

catalytic activity
   oxidoreductase activity
      oxidoreductase activity, acting on the CH-CH group of donors
         acyl-CoA dehydrogenase activity

Human Disease Association

Defects in ACAD8 are the cause of isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]. The symptoms of IBDD generally appear until late in infancy or in childhood and can include poor feeding and growth (failure to thrive), a weakened and enlarged heart (dilated cardiomyopathy), seizures, and low numbers of red blood cells (anemia).

Predicted Transcript
     1 GCCATGGCTTGGAGGGGCTGCTGCCGGCTGGGGCTTCGCTGGAGGCATGGCTGGAGAGAG
    61 GCAGGCGGGCGCAGAGGGATTGCCTCCTGCATTGACCCCTCCATGGGTCTGACCGAAGAA
   121 CAGAAGGAGTTCCAAAAAGTGGCCTTTGATTTTGCTGCCAAAGAAATGGCCCCACACATG
   181 GCGGAGTGGGATGAAAAGGAGATTTTCCCTGTGGAAACCATACGGAGAGCGGCTCAGCTG
   241 GGGTTCGGGGGCATCTACGTGAGGCCAGACGTGGGGGGATCTGGACTGTCCCGCCTCGAT
   301 ACCTCCATCATCTTCGAGGCTCTTTCAACCGGCTGTGTCAGCACAACTGCCTATCTCAGC
   361 ATCCACAATATGTGCGCTTGGATGGTCGACGTCTTCGGGAAGGAGGAGCAGCGGCAGAGG
   421 TTTTGCCCCTCACTTTGCAGCATGGAAAAACTGGCCTCTTACTGCCTGACAGAACCAGGC
   481 AGTGGCAGTGATGCTGCGTCTTTGCTAACATCGGCCAAGAGGGACGGAGACAATTACATC
   541 TTAAATGGTTCCAAGGCTTTCATCAGTGGCGGCGGAGACACCGATCTCTATGTGGTGATG
   601 TGCCGAACAGGAGGCCCGGGCCCTAAGGGCATCTCCTGCCTGGTGCTGGAGAAAGGGACC
   661 CCTGGATTGAGCTTTGGAAAAAAGGAGAGGAAGGTGGGCTGGAACTCACAGCCGACCCGA
   721 GCTGTGGTATTTGAGGACTGTGCTGTCCCAGTAGCCAACCGCCTTGGCGAAGAAGGCCAG
   781 GGCTTCAACATCGCAATGAAGGGCTTGAATGGAGGCCGAATTAACATTGCTTCTTGTTCT
   841 TTGGGGGCTGCCCATGCTTCGATCCTGCTGGCCCGGGATCACCTTAAGGTCCGTAAACAG
   901 TTTGGAGACCTGCTGGCCAACTATCAGTACCTCCAGTTCCAGCTAGCCGAGATGGCCACC
   961 CGCTTAGTGGCGGCTCGGCTGATGGTACGCAATGCAGCCAGGGCCCTGCAAGAGGAGCGG
  1021 GAGGACGCTGTGGCCTTGTGCTCTATGGCCAAGCTGTTTGCCACGGATGAATGCTTTGCG
  1081 GTA

Predicted Protein Product
AMAWRGCCRLGLRWRHGWREAGGRRGIASCIDPSMGLTEEQKEFQKVAFDFAAKEMAPHM
AEWDEKEIFPVETIRRAAQLGFGGIYVRPDVGGSGLSRLDTSIIFEALSTGCVSTTAYLS
IHNMCAWMVDVFGKEEQRQRFCPSLCSMEKLASYCLTEPGSGSDAASLLTSAKRDGDNYI
LNGSKAFISGGGDTDLYVVMCRTGGPGPKGISCLVLEKGTPGLSFGKKERKVGWNSQPTR
AVVFEDCAVPVANRLGEEGQGFNIAMKGLNGGRINIASCSLGAAHASILLARDHLKVRKQ
FGDLLANYQYLQFQLAEMATRLVAARLMVRNAARALQEEREDAVALCSMAKLFATDECFA
V
Protein Alignment to Mouse
sp|Q9D7B6|ACAD8_MOUSE Isobutyryl-CoA dehydrogenase, mitochondrial OS=Mus
            musculus GN=Acad8 PE=2 SV=2
      MGI:1914198 Acad8 acyl-Coenzyme A dehydrogenase family, member 8 (Chr 9)
        Length = 413

 Score = 1493 (530.6 bits), Expect = 9.0e-154, P = 9.0e-154
 Identities = 276/337 (81%), Positives = 312/337 (92%)

Query:    25 RGIASCIDPSMGLTEEQKEFQKVAFDFAAKEMAPHMAEWDEKEIFPVETIRRAAQLGFGG 84
             R I  CIDPS+GL EEQK FQKVAFDFAA+EMAP+MAEWD+KE+FPV+ +R+AAQLGFGG
Sbjct:    27 RSITFCIDPSLGLNEEQKGFQKVAFDFAAREMAPNMAEWDQKELFPVDVMRKAAQLGFGG 86

Query:    85 IYVRPDVGGSGLSRLDTSIIFEALSTGCVSTTAYLSIHNMCAWMVDVFGKEEQRQRFCPS 144
             +YVR DVGGSGLSRLDTS+IFEAL+TGC STTAY+SIHNMCAWM+D FG EEQR +FCP 
Sbjct:    87 VYVRTDVGGSGLSRLDTSVIFEALATGCTSTTAYISIHNMCAWMIDSFGNEEQRHKFCPP 146

Query:   145 LCSMEKLASYCLTEPGSGSDAASLLTSAKRDGDNYILNGSKAFISGGGDTDLYVVMCRTG 204
             LC+MEK ASYCLTEPGSGSDAASLLTSAK+ GD+YILNGSKAFISGGG++D+YVVMCRTG
Sbjct:   147 LCTMEKFASYCLTEPGSGSDAASLLTSAKQQGDHYILNGSKAFISGGGESDIYVVMCRTG 206

Query:   205 GPGPKGISCLVLEKGTPGLSFGKKERKVGWNSQPTRAVVFEDCAVPVANRLGEEGQGFNI 264
             G G KGISC+V+EKGTPGLSFGKKE+KVGWNSQPTRAV+FEDCAVPVANR+G EGQGF I
Sbjct:   207 GSGAKGISCIVVEKGTPGLSFGKKEKKVGWNSQPTRAVIFEDCAVPVANRIGTEGQGFLI 266

Query:   265 AMKGLNGGRINIASCSLGAAHASILLARDHLKVRKQFGDLLANYQYLQFQLAEMATRLVA 324
             AMKGLNGGRIN+ASCSLGAAHAS++L ++HLKVRKQFG  LA  QYLQFQLA+MAT+LVA
Sbjct:   267 AMKGLNGGRINVASCSLGAAHASVILTQEHLKVRKQFGAPLARSQYLQFQLADMATKLVA 326

Query:   325 ARLMVRNAARALQEEREDAVALCSMAKLFATDECFAV 361
             +RLM+R AA ALQEEREDAVALCSMAKLFAT+ECFA+
Sbjct:   327 SRLMIRTAAVALQEEREDAVALCSMAKLFATEECFAI 363