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Gene Model: Aldoa

NomenclatureGenomic Location
SymbolAldoaChromosome2
NameFructose-bisphosphate aldolase ALinkage mapunknown
SpeciesDracomimus familiarisGenome Coordinates2: 41 Mbp

Molecular Function

Plays a key role in glycolysis and gluconeogenesis. In addition, may also function as scaffolding protein.

D-fructose 1,6-bisphosphate = glycerone phosphate + D-glyceraldehyde 3-phosphate.

Molecular Function Terms:

binding
   protein binding
      cytoskeletal protein binding

catalytic activity
   lyase activity
      carbon-carbon lyase activity
         aldehyde-lyase activity
            fructose-bisphosphate aldolase activity

Human Disease Association

Defects in ALDOA are the cause of glycogen storage disease type 12 (GSD12) [MIM:611881]; also known as red cell aldolase deficiency. A metabolic disorder associated with increased hepatic glycogen and hemolytic anemia. It may lead to myopathy with exercise intolerance and rhabdomyolysis.

Predicted Transcript
     1 ATGCCTCACCAATACCCAGCCTTGACTCCTGAGCAGAAGAAGGAGCTGGCGGAAATTGCC
    61 CACCGTATTGTGGCACCTGGCAAGGGCATCCTCGCTGCAGACGAATCCACCGGCAGCATT
   121 GCCAAGCGCCTGCAGTCCATTGGCACCGAGAACACCGAGGAGAACCGCCGCTTCTATCGG
   181 CAGCTGCTCTTCACCGCCGATGACCGTGTCAACCCTTGCATCGGAGGCGTCATCCTCTTC
   241 CATGAGACCATGTACCAGAAAGCCGACGACGGCCGCCAGTTCACCAAGGTCATTAAGGAC
   301 AAAGGTGCCGTTGTGGGCATCAAGGTTGACAAAGGTGTTGTGCCCCTTGCTGGGACTAAT
   361 GGAGAGACCACCACCCAGGGTCTGGATGGCTTGGCTGAACGCTGTGCCCAGTACAAGAAG
   421 GATGGCGCTGACTTTGCCAAGTGGCGCTCTGTCCTGAAGATCACTCCAACCACTCCTTCT
   481 CGCCTGGCCATCATTGAGAATGCCAATGTACTTGCCCGTTACGCCAGCATCTGCCAGCAG
   541 AATGGGATTGTTCCTATTGTGGAACCTGAAATCCTCCCTGATGGTGACCATGATCTCAAA
   601 CGGTGCCAATATGTGACAGAAAAGGTCCTGGCTGCAGTGTACAAGGCCCTGAGCGACCAC
   661 CACATCTACCTGGAGGGCACCCTGCTCAAGCCAAACATGGTGACCGCTGGCCATGCCTGC
   721 ACCCAGAAGTACTCCGCTGAGGAAATTGCCATGGCAACTGTTACCGCTCTACGCCGTACT
   781 GTGCCCCCAGCTGTGCCTGGAATCACCTTCCTGTCTGGTGGCCAGAGCGAGGAGGAGGCC
   841 TCAATCAACCTGAATGCCATCAACAAGTGTCCCCTGCACAAGCCATGGGCCCTGACCTTC
   901 TCCTATGGCCGTGCCCTGCAAGCTTCTGCCCTCAAGGCCTGGAGTGGCAAGAAGGAGAAC
   961 CTCAAGAATGCCCAGGAGGAATACATCAAGCGTGCTTTGGCCAACAGCCTTGCCTGCCAA
  1021 GGCAAATACGTTTCATCTGGCCAAACCGGAGCTGCAGCCAGCGAGTCCCTCTTTGTATCC
  1081 AACCATGCTTATTAA

Predicted Protein Product
MPHQYPALTPEQKKELAEIAHRIVAPGKGILAADESTGSIAKRLQSIGTENTEENRRFYR
QLLFTADDRVNPCIGGVILFHETMYQKADDGRQFTKVIKDKGAVVGIKVDKGVVPLAGTN
GETTTQGLDGLAERCAQYKKDGADFAKWRSVLKITPTTPSRLAIIENANVLARYASICQQ
NGIVPIVEPEILPDGDHDLKRCQYVTEKVLAAVYKALSDHHIYLEGTLLKPNMVTAGHAC
TQKYSAEEIAMATVTALRRTVPPAVPGITFLSGGQSEEEASINLNAINKCPLHKPWALTF
SYGRALQASALKAWSGKKENLKNAQEEYIKRALANSLACQGKYVSSGQTGAAASESLFVS
NHAY
Protein Alignment to Mouse
sp|P05064|ALDOA_MOUSE Fructose-bisphosphate aldolase A OS=Mus musculus
            GN=Aldoa PE=1 SV=2
      MGI:87994 Aldoa aldolase A, fructose-bisphosphate (Chr 7)
        Length = 364

 Score = 1730 (614.0 bits), Expect = 7.1e-179, P = 7.1e-179
 Identities = 334/364 (91%), Positives = 345/364 (94%)

Query:     1 MPHQYPALTPEQKKELAEIAHRIVAPGKGILAADESTGSIAKRLQSIGTENTEENRRFYR 60
             MPH YPALTPEQKKEL++IAHRIVAPGKGILAADESTGSIAKRLQSIGTENTEENRRFYR
Sbjct:     1 MPHPYPALTPEQKKELSDIAHRIVAPGKGILAADESTGSIAKRLQSIGTENTEENRRFYR 60

Query:    61 QLLFTADDRVNPCIGGVILFHETMYQKADDGRQFTKVIKDKGAVVGIKVDKGVVPLAGTN 120
             QLL TADDRVNPCIGGVILFHET+YQKADDGR F +VIK KG VVGIKVDKGVVPLAGTN
Sbjct:    61 QLLLTADDRVNPCIGGVILFHETLYQKADDGRPFPQVIKSKGGVVGIKVDKGVVPLAGTN 120

Query:   121 GETTTQGLDGLAERCAQYKKDGADFAKWRSVLKITPTTPSRLAIIENANVLARYASICQQ 180
             GETTTQGLDGL+ERCAQYKKDGADFAKWR VLKI   TPS LAI+ENANVLARYASICQQ
Sbjct:   121 GETTTQGLDGLSERCAQYKKDGADFAKWRCVLKIGEHTPSALAIMENANVLARYASICQQ 180

Query:   181 NGIVPIVEPEILPDGDHDLKRCQYVTEKVLAAVYKALSDHHIYLEGTLLKPNMVTAGHAC 240
             NGIVPIVEPEILPDGDHDLKRCQYVTEKVLAAVYKALSDHH+YLEGTLLKPNMVT GHAC
Sbjct:   181 NGIVPIVEPEILPDGDHDLKRCQYVTEKVLAAVYKALSDHHVYLEGTLLKPNMVTPGHAC 240

Query:   241 TQKYSAEEIAMATVTALRRTVPPAVPGITFLSGGQSEEEASINLNAINKCPLHKPWALTF 300
             TQK+S EEIAMATVTALRRTVPPAV G+TFLSGGQSEEEASINLNAINKCPL KPWALTF
Sbjct:   241 TQKFSNEEIAMATVTALRRTVPPAVTGVTFLSGGQSEEEASINLNAINKCPLLKPWALTF 300

Query:   301 SYGRALQASALKAWSGKKENLKNAQEEYIKRALANSLACQGKYVSSGQTGAAASESLFVS 360
             SYGRALQASALKAW GKKENLK AQEEYIKRALANSLACQGKY  SGQ+GAAASESLF+S
Sbjct:   301 SYGRALQASALKAWGGKKENLKAAQEEYIKRALANSLACQGKYTPSGQSGAAASESLFIS 360

Query:   361 NHAY 364
             NHAY
Sbjct:   361 NHAY 364