| Nomenclature | Genomic Location |
| Symbol | Dld | Chromosome | 2 |
| Name | Dihydrolipoamide dehydrogenase | Linkage map | unknown |
| Species | Dracomimus familiaris | Genome Coordinates | Chr2: 56 Mbp |
| Molecular Function |
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Lipoamide dehydrogenase is a component of the glycine cleavage system as well as of the
alpha-ketoacid dehydrogenase complexes. Involved in the hyperactivation of spermatazoa during
capacitation and in the spermatazoal acrosome reaction.
Molecular Function Terms:
binding
cofactor binding
coenzyme binding
NAD binding
carboxylic acid binding
lipoic acid binding
nucleotide binding
NAD binding
catalytic activity
oxidoreductase activity
oxidoreductase activity, acting on a sulfur group of donors
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| Human Disease Association |
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Note=Defects in DLD are involved in the development of congenital infantile lactic acidosis.
Defects in DLD are a cause of maple syrup urine disease (MSUD) [MIM:248600]. MSUD is characterized
by mental and physical retardation, feeding problems and a maple syrup odor to the urine. The keto
acids of the branched-chain amino acids are present in the urine, resulting from a block in
oxidative decarboxylation.
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1 ATGCAGACGTGGAGCCGAGTCTGTTGCGCCCTCGCCAAGAGGGGCCATTTTAGCCAGATT
61 CATCATGGCTTACAAGGCATTTCTGTGGTGCCTTTAAGAACCTATGCTGACCAAGTAATA
121 GTTGATGCTGATGTAACAGTCATTGGTTCTGGTCCAGGGGGTTATGTTGCAGCTATCAAA
181 TCTGCTCAGCTTGGCTTTAAGTCTGTGACATGCTTCCAAAAAAAAAACAATAGTGCTTTA
241 AAATCTTGCAGAGTGGCTGGGATGAGCCAGTCACAGGCCTTACTAAATAATTCACACTTC
301 TACCATTTGGCCCATGGAAAAGACTTCGCGAGTAGAGGAATTGAAATTACAGGACTCCGG
361 CTGAATTTAGAGAAGATGATGGAACAGAAGAGCGGTGCAGTGAAAGCCTTAACAGGTGGA
421 ATTGCTCATTTGTTTAAACAGAACAAGGTAACACATGTGCCTGGATTTGGAAAAATAACA
481 GGCAAAAACCAGGTCACAGCAACCAAAGAAGATGGCAGCACTCAGGTTATTAATACAAAG
541 AACATCCTTATAGCTACAGGCTCAGAAGTGACACCTTTTCCAGGAATTACGATTGATGAA
601 GAAACAATAGTATCATCCACTGGTGCACTGTCATTGAAGCAAGTTCCTGAAAAAATGGTT
661 GTTATTGGTGCTGGAGTCATTGGTGTGGAACTGGGCTCGGTCTGGCAGCGCCTAGGTGCT
721 GATGTGACAGCTGTGGAATTCTTGGGCCATGTTGGTGGATTGGGCATTGACATGGAGATA
781 TCAAAAAACTTCCAACGTATTCTCCAGAAGCAAGGGCTTAAATTTAAACTAAATACCAAA
841 GTTACAGGTGCTACCAAGAAACCAGATGGAAAGATTGATGTTGCGATTGAAGCTGCTGCT
901 GGTGGCAAGGCAGAAGTGATTACTTGTGATGTCCTTTTGGTTTGCATTGGGCGGCGTCCT
961 TTCACTAAAAATCTTGGTCTGGAAGATGTTGGTATTGAACTAGATAACAAAGGTAGAATC
1021 CCCATCAACAACAGATTCCAAACCAAAGTGCCAAACATTTATGCTATTGGCGATGTAGTC
1081 GCTGGGCCAATGCTTGCTCACAAAGCTGAAGATGAAGGCATTCTTTGTGTTGAGGGAATA
1141 GCCGGAGGTGCAGTTCATATTGACTACAACTGTGTGCCTTCAGTAGTTTATACACACCCT
1201 GAAGTTGCCTGGATTGGCAAATCTGAAGAACAGCTGAAAGAAGAGGGGATAGAGTACAAA
1261 GTTGGGAAATTTCCTTTTGCTGCTAACAGCAGAGCAAAGACCAATGCTGACACAGATGGG
1321 TTGGTGAAGATGTTAAGTCACAAAACAACTGACAGGATGCTCGGAGCTCATATTCTAGGC
1381 GCAGGGGCTGGAGAAATGATCAATGAAGCTGCCCTTGCAATGGAATACGGAGCATCATGT
1441 GAAGATGTAGCCAGAGTTTGCCATGCACATCCAACTGTATCTGAAGCCTTCAGAGAAGCA
1501 AACCTGGCAGCATCATTTGGCAAAGCTATCAACTTCTAA
| Predicted Protein Product |
MQTWSRVCCALAKRGHFSQIHHGLQGISVVPLRTYADQVIVDADVTVIGSGPGGYVAAIK
SAQLGFKSVTCFQKKNNSALKSCRVAGMSQSQALLNNSHFYHLAHGKDFASRGIEITGLR
LNLEKMMEQKSGAVKALTGGIAHLFKQNKVTHVPGFGKITGKNQVTATKEDGSTQVINTK
NILIATGSEVTPFPGITIDEETIVSSTGALSLKQVPEKMVVIGAGVIGVELGSVWQRLGA
DVTAVEFLGHVGGLGIDMEISKNFQRILQKQGLKFKLNTKVTGATKKPDGKIDVAIEAAA
GGKAEVITCDVLLVCIGRRPFTKNLGLEDVGIELDNKGRIPINNRFQTKVPNIYAIGDVV
AGPMLAHKAEDEGILCVEGIAGGAVHIDYNCVPSVVYTHPEVAWIGKSEEQLKEEGIEYK
VGKFPFAANSRAKTNADTDGLVKMLSHKTTDRMLGAHILGAGAGEMINEAALAMEYGASC
EDVARVCHAHPTVSEAFREANLAASFGKAINF
| Protein Alignment to Mouse |
sp|O08749|DLDH_MOUSE Dihydrolipoyl dehydrogenase, mitochondrial OS=Mus
musculus GN=Dld PE=1 SV=2
MGI:107450 Dld dihydrolipoamide dehydrogenase (Chr 12)
Length = 509
Score = 2273 (805.2 bits), Expect = 2.0e-236, P = 2.0e-236
Identities = 435/512 (84%), Positives = 480/512 (93%)
Query: 1 MQTWSRVCCALAKRGHFSQIHHGLQGISVVPLRTYADQVIVDADVTVIGSGPGGYVAAIK 60
MQ+WSRV +LAK+GHF++I HGLQG+S VPLRTYADQ I +ADVTVIGSGPGGYVAAIK
Sbjct: 1 MQSWSRVYRSLAKKGHFNRISHGLQGVSSVPLRTYADQPI-EADVTVIGSGPGGYVAAIK 59
Query: 61 SAQLGFKSVTCFQKKNNSALKSCRVAGMSQSQALLNNSHFYHLAHGKDFASRGIEITGLR 120
SAQLGFK+V C +K N + +C G S+ALLNNSH+YH+AHGKDFASRGIEI +R
Sbjct: 60 SAQLGFKTV-CIEK-NETLGGTCLNVGCIPSKALLNNSHYYHMAHGKDFASRGIEIPEVR 117
Query: 121 LNLEKMMEQKSGAVKALTGGIAHLFKQNKVTHVPGFGKITGKNQVTATKEDGSTQVINTK 180
LNLEKMMEQK AVKALTGGIAHLFKQNKV HV GFGKITGKNQVTATK DGSTQVI+TK
Sbjct: 118 LNLEKMMEQKHSAVKALTGGIAHLFKQNKVVHVNGFGKITGKNQVTATKADGSTQVIDTK 177
Query: 181 NILIATGSEVTPFPGITIDEETIVSSTGALSLKQVPEKMVVIGAGVIGVELGSVWQRLGA 240
NIL+ATGSEVTPFPGITIDE+TIVSSTGALSLK+VPEK+VVIGAGVIGVELGSVWQRLGA
Sbjct: 178 NILVATGSEVTPFPGITIDEDTIVSSTGALSLKKVPEKLVVIGAGVIGVELGSVWQRLGA 237
Query: 241 DVTAVEFLGHVGGLGIDMEISKNFQRILQKQGLKFKLNTKVTGATKKPDGKIDVAIEAAA 300
DVTAVEFLGHVGG+GIDMEISKNFQRILQ+QG KFKLNTKVTGATKK DGKIDV++EAA+
Sbjct: 238 DVTAVEFLGHVGGIGIDMEISKNFQRILQRQGFKFKLNTKVTGATKKSDGKIDVSVEAAS 297
Query: 301 GGKAEVITCDVLLVCIGRRPFTKNLGLEDVGIELDNKGRIPINNRFQTKVPNIYAIGDVV 360
GGKAEVITCDVLLVCIGRRPFT+NLGLE++GIELD KGRIP+NNRFQTK+PNIYAIGDVV
Sbjct: 298 GGKAEVITCDVLLVCIGRRPFTQNLGLEELGIELDPKGRIPVNNRFQTKIPNIYAIGDVV 357
Query: 361 AGPMLAHKAEDEGILCVEGIAGGAVHIDYNCVPSVVYTHPEVAWIGKSEEQLKEEGIEYK 420
AGPMLAHKAEDEGI+CVEG+AGGAVHIDYNCVPSV+YTHPEVAW+GKSEEQLKEEGIE+K
Sbjct: 358 AGPMLAHKAEDEGIICVEGMAGGAVHIDYNCVPSVIYTHPEVAWVGKSEEQLKEEGIEFK 417
Query: 421 VGKFPFAANSRAKTNADTDGLVKMLSHKTTDRMLGAHILGAGAGEMINEAALAMEYGASC 480
+GKFPFAANSRAKTNADTDG+VK+L HK+TDR+LGAHILG GAGEM+NEAALA+EYGASC
Sbjct: 418 IGKFPFAANSRAKTNADTDGMVKILGHKSTDRVLGAHILGPGAGEMVNEAALALEYGASC 477
Query: 481 EDVARVCHAHPTVSEAFREANLAASFGKAINF 512
ED+ARVCHAHPT+SEAFREANLAA+FGK INF
Sbjct: 478 EDIARVCHAHPTLSEAFREANLAAAFGKPINF 509
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