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Gene Model: Sdha

NomenclatureGenomic Location
SymbolSdhaChromosomeX
NameSuccinate dehydrogenase complex,
subunit A, flavoprotein (Fp)		Linkage mapunknown
SpeciesDracomimus familiarisGenome CoordinatesX: 66 Mbp

Molecular Function

Flavoprotein (FP) subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q).

Succinate + ubiquinone = fumarate + ubiquinol.

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
         succinate dehydrogenase activity

electron carrier activity

Human Disease Association

Defects in SDHA are a cause of mitochondrial complex II deficiency (MT-C2D) [MIM:252011]. A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations. Clinical features include psychomotor regression in infants, poor growth with lack of speech development, severe spastic quadriplegia, dystonia, progressive leukoencephalopathy, muscle weakness, exercise intolerance, cardiomyopathy. Some patients manifest Leigh syndrome or Kearns-Sayre syndrome.

Defects in SDHA are a cause of Leigh syndrome (LS) [MIM:256000]. LS is a severe disorder characterized by bilaterally symmetrical necrotic lesions in subcortical brain regions.

Defects in SDHA are the cause of cardiomyopathy dilated type 1GG (CMD1GG) [MIM:613642]. CMD1GG is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

Predicted Transcript
     1 ATAGAAGGTGTAGAAGCCATGACAGAATTACTGCATCAACATTTTCTTATCATCTTTCAG
    61 CAGGGATTTGCAGCTGGCCAGGTTTTCTCTCGAAACTTCCACTTCACAGTTTATGGAAAG
   121 AAAAATGCATCTGCTAAAGTATCTGATTCAATTTCAACACAGTATCCTGTAGTGGATCAT
   181 GAATTTGATGCAGTTGTTGTGGGTGCAGGTGGTGCAGGTCTGCGAGCTGCATTTGGCTTA
   241 TCTGAGGCTGGGTTTAATACAGCATGTGTTACCAAATTGTTTCCTACCAGATCCCATACT
   301 GTTGCTGCACAGGGAGGAATCAATGCTGCTTTGGGGAATATGGAAGAGGATAACTGGAGA
   361 TGGCATTTCTATGATACTGTGAAAGGCTCTGACTGGTTGGGTGACCAGGATGCAATTCAT
   421 TACATGACTGAGCAAGCCCCTGCTTCAGTTATTGAGTTGGAGAATTATGGTATGCCATTT
   481 AGCCGGACAGAAGAAGGAAAGATCTATCAGCGTGCCTTTGGGGGACAGAGTCTTAAGTTT
   541 GGGAAAGGAGGCCAGGCTCATCGCTGCTGCTGTGTAGCTGACCGGACAGGACACTCCTTG
   601 CTACACACCCTTTATGGGAGGTCTCTCAGATATGACACCAGTTACTTTGTGGAGTATTTT
   661 GTCCTTGATCTCCTTATGGAAAACGGAGAATGTTGTGGCGTTATTGCACTTTGTATAGAA
   721 GATGGCACCATACATCGTATAAGAGCAAAGAATACCGTTATCGCCACTGGAGGGTATGGG
   781 CGCACATACTTCAGCTGCACATCTGCTCACACTTGTACTGGAGATGGGACAGCTATGATT
   841 ACTCGAGCAGGCCTGCCTTGTCAAGATTTGGAATTTGTGCAGTTCCATCCCACAGGGATT
   901 TATGGTGCTGGCTGCCTTATTACTGAGGGCTGTCGTGGTGAGGGAGGCATTCTCATAAAC
   961 AGTGAAGGTGAAAGGTTTATGGAGAGATATGCTCCAGTTGCAAAGGATCTTGCATCAAGG
  1021 GATGTGGTGTCTCGATCTATGACTATTGAGATCCGTGAAGGAAGAGGATGTGGACCTGAG
  1081 AAAGACCATGTGTACTTGCAGTTGCACCATTTGCCACCTCAGCAGCTAGCCACACGTCTT
  1141 CCTGGGATTTCAGAAACTGCTATGATATTTGCTGGTGTGGATGTCACCAAAGAACCCATT
  1201 CCTGTTCTGCCCACTGTGCATTACAATATGGGAGGCGTCCCTACAAACTACAAAGGGCAG
  1261 GTGATTACACATGTCAATGGCAAAGATCAAATAGTACCTGGCTTGTATGCTTGTGGTGAA
  1321 GCAGCCTGTGCCTCTGTACATGGTGCTAATCGTCTTGGAGCAAACTCTCTTTTGGACTTG
  1381 GTAGTCTTTGGACGTGCATGTGCTCTTAGCATTGCAGAAACCTGCAAACCTGGGGAACCA
  1441 GTTCCATCAATTAAACCAAATGCAGGTGAAGAATCTGTGGCAAATTTGGATAAATTGCGC
  1501 TTTGCCAATGGAAGCATCAGAACATCAGAATTGAGGCTTGATATGCAAAAAACAATGCAG
  1561 AGCCATGCTGCCGTGTTTCGTACAGGCCCTGTCCTACAGGAAGGTTGTGAGAAAGTTTCC
  1621 AGCCTTTATAGCAGTATGGATGACCTGAAGACATTTGATAGAGGTGTTGTTTGGAATACT
  1681 GACTTGGTGGAGACTTTGGAGCTACAGAACCTGATGCTCTGTGCTTTGCAAACTATTTAT
  1741 GGTGCAGAAGCTCGGAAAGAGACACGTGGTGCTCATGCTCGGGAAGATTATAAGGTTAGG
  1801 ATAGATGAATATGATTATTCTAAACCAATCGAAGGACAACAGGAAAAGCCATTTGATCAA
  1861 CACTGGAGAAAGCATACCCTCTCTTATGTAGATGTCAAGACAGGGAAGGTGTCTCTGGAA
  1921 TATAGACCTGTCATTGACCAAACCCTGAATGAAGAAGATTGTGCAGCAGTTCCACCCGCT
  1981 ATTCGCTCATATTAG

Predicted Protein Product
IEGVEAMTELLHQHFLIIFQQGFAAGQVFSRNFHFTVYGKKNASAKVSDSISTQYPVVDH
EFDAVVVGAGGAGLRAAFGLSEAGFNTACVTKLFPTRSHTVAAQGGINAALGNMEEDNWR
WHFYDTVKGSDWLGDQDAIHYMTEQAPASVIELENYGMPFSRTEEGKIYQRAFGGQSLKF
GKGGQAHRCCCVADRTGHSLLHTLYGRSLRYDTSYFVEYFVLDLLMENGECCGVIALCIE
DGTIHRIRAKNTVIATGGYGRTYFSCTSAHTCTGDGTAMITRAGLPCQDLEFVQFHPTGI
YGAGCLITEGCRGEGGILINSEGERFMERYAPVAKDLASRDVVSRSMTIEIREGRGCGPE
KDHVYLQLHHLPPQQLATRLPGISETAMIFAGVDVTKEPIPVLPTVHYNMGGVPTNYKGQ
VITHVNGKDQIVPGLYACGEAACASVHGANRLGANSLLDLVVFGRACALSIAETCKPGEP
VPSIKPNAGEESVANLDKLRFANGSIRTSELRLDMQKTMQSHAAVFRTGPVLQEGCEKVS
SLYSSMDDLKTFDRGVVWNTDLVETLELQNLMLCALQTIYGAEARKETRGAHAREDYKVR
IDEYDYSKPIEGQQEKPFDQHWRKHTLSYVDVKTGKVSLEYRPVIDQTLNEEDCAAVPPA
IRSY
Protein Alignment to Mouse
sp|Q8K2B3|DHSA_MOUSE Succinate dehydrogenase [ubiquinone] flavoprotein
            subunit, mitochondrial OS=Mus musculus GN=Sdha PE=1 SV=1
      MGI:1914195 Sdha succinate dehydrogenase complex, subunit A, flavoprotein (Fp) (Chr 13)
        Length = 664

 Score = 2977 (1053.0 bits), Expect = 5.1e-311, P = 5.1e-311
 Identities = 561/662 (84%), Positives = 595/662 (89%)

Query:     3 GVEAMTELLHQHFLIIFQQGFAAGQVFSRNFHFTVYGKKNASAKVSDSISTQYPVVDHEF 62
             GV A++ LL    L +        Q  +  FHF+V   K ASAKVSD+ISTQYPVVDHEF
Sbjct:     3 GVGAVSRLLRGRRLALTGAWPGTLQKQTCGFHFSVGENKKASAKVSDAISTQYPVVDHEF 62

Query:    63 DXXXXXXXXXXXXXXXXLSEAGFNTACVTKLFPTRSHTVAAQGGINAALGNMEEDNWRWH 122
             D                LSEAGFNTAC+TKLFPTRSHTVAAQGGINAALGNMEEDNWRWH
Sbjct:    63 DAVVVGAGGAGLRAAFGLSEAGFNTACLTKLFPTRSHTVAAQGGINAALGNMEEDNWRWH 122

Query:   123 FYDTVKGSDWLGDQDAIHYMTEQAPASVIELENYGMPFSRTEEGKIYQRAFGGQSLKFGK 182
             FYDTVKGSDWLGDQDAIHYMTEQAPASV+ELENYGMPFSRTE+GKIYQRAFGGQSLKFGK
Sbjct:   123 FYDTVKGSDWLGDQDAIHYMTEQAPASVVELENYGMPFSRTEDGKIYQRAFGGQSLKFGK 182

Query:   183 GGQAHRCCCVADRTGHSLLHTLYGRSLRYDTSYFVEYFVLDLLMENGECCGVIALCIEDG 242
             GGQAHRCCCVADRTGHSLLHTLYGRSLRYDTSYFVEYF LDLLMENGEC GVIALCIEDG
Sbjct:   183 GGQAHRCCCVADRTGHSLLHTLYGRSLRYDTSYFVEYFALDLLMENGECRGVIALCIEDG 242

Query:   243 TIHRIRAKNTVIATGGYGRTYFSCTSAHTCTGDGTAMITRAGLPCQDLEFVQFHPTGIYG 302
             +IHRIRAKNTVIATGGYGRTYFSCTSAHT TGDGTAM+TRAGLPCQDLEFVQFHPTGIYG
Sbjct:   243 SIHRIRAKNTVIATGGYGRTYFSCTSAHTSTGDGTAMVTRAGLPCQDLEFVQFHPTGIYG 302

Query:   303 AGCLITEGCRGEGGILINSEGERFMERYAPVAKDLASRDVVSRSMTIEIREGRGCGPEKD 362
             AGCLITEGCRGEGGILINS+GERFMERYAPVAKDLASRDVVSRSMT+EIREGRGCGPEKD
Sbjct:   303 AGCLITEGCRGEGGILINSQGERFMERYAPVAKDLASRDVVSRSMTLEIREGRGCGPEKD 362

Query:   363 HVYXXXXXXXXXXXATRLPGISETAMIFAGVDVTKEPIPVLPTVHYNMGGVPTNYKGQVI 422
             HVY           ATRLPGISETAMIFAGVDVTKEPIPVLPTVHYNMGG+PTNYKGQV+
Sbjct:   363 HVYLQLHHLPPEQLATRLPGISETAMIFAGVDVTKEPIPVLPTVHYNMGGIPTNYKGQVL 422

Query:   423 THVNGKDQIVPGLYACGEAACASVHGANRLGANSLLDLVVFGRACALSIAETCKPGEPVP 482
              HVNG+DQIVPGLYACGEAACASVHGANRLGANSLLDLVVFGRACALSIAE+C+PG+ VP
Sbjct:   423 KHVNGQDQIVPGLYACGEAACASVHGANRLGANSLLDLVVFGRACALSIAESCRPGDKVP 482

Query:   483 SIKPNAGEESVANLDKLRFANGSIRTSELRLDMQKTMQSHAAVFRTGPVLQEGCEKVSSL 542
             SIK NAGEESV NLDKLRFA+GSIRTSELRL+MQK+MQ+HAAVFR G VLQEGCEK+S L
Sbjct:   483 SIKANAGEESVMNLDKLRFADGSIRTSELRLNMQKSMQNHAAVFRVGSVLQEGCEKISQL 542

Query:   543 YSSMDDLKTFDRGVVWNTDLVETLELQNLMLCALQTIYGAEARKETRGAHAREDYKVRID 602
             Y  +  LKTFDRG+VWNTDLVETLELQNLMLCALQTIYGAEARKE+RGAHAREDYKVR+D
Sbjct:   543 YGDLKHLKTFDRGMVWNTDLVETLELQNLMLCALQTIYGAEARKESRGAHAREDYKVRVD 602

Query:   603 EYDYSKPIEGQQEKPFDQHWRKHTLSYVDVKTGKVSLEYRPVIDQTLNEEDCAAVPPAIR 662
             EYDYSKPI+GQQ+KPF +HWRKHTLSYVD+KTGKV+LEYRPVID+TLNE DCA VPPAIR
Sbjct:   603 EYDYSKPIQGQQKKPFGEHWRKHTLSYVDIKTGKVTLEYRPVIDKTLNEADCATVPPAIR 662

Query:   663 SY 664
             SY
Sbjct:   663 SY 664