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Dld Gene Detail
Summary
  • Symbol
    Dld
  • Name
    dihydrolipoamide dehydrogenase
  • Synonyms
    branched chain alpha-keto acid dehydrogenase complex subunit E3, dihydrolipoyl dehydrogenase
  • Feature Type
    protein coding gene
  • IDs
    MGI:107450
    NCBI Gene: 13382
Location & Maps
more
  • Sequence Map
    Chr12:31331564-31351437 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      19874 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    DLD, dihydrolipoamide dehydrogenase
  • Vertebrate Orthologs
    10
  • Human Ortholog
    DLD, dihydrolipoamide dehydrogenase
    Orthology source: HomoloGene
  • Synonyms
    DLDD, DLDH, E3, GCSL, LAD, PHE3
  • Links
    NCBI Gene ID: 1738
    neXtProt AC: NX_P09622

  • Chr Location
    7q31-q32; chr7:107891107-107921198 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human DLD associations

Human Disease Mouse Models
       Dihydrolipoamide Dehydrogenase Deficiency; DLDD   OMIM: 246900
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    5 phenotypes from 1 allele in 1 genetic background
    9 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    4
  • Gene trapped
    1
  • Targeted
    3
  • Incidental Mutations
    APF
Embryos homozygous for a targeted null mutation exhibit a developmental delay at 7.5 days postcoitum and are resorbed by 9.5 days postcoitum.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000020664 Ensembl Gene Model | MGI Sequence Detail 19874 C57BL/6J ±  kb
transcript ENSMUST00000110857 Ensembl | MGI Sequence Detail 2241 Not Applicable  
polypeptide ENSMUSP00000106481 Ensembl | MGI Sequence Detail 509 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    102 from dbSNP Build 137
  • PCR
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000006506 dihydrolipoyl dehydrogenase, mitochondrial
  • EC
  • InterPro Domains
    IPR006258 Dihydrolipoamide dehydrogenase
    IPR016156 FAD/NAD-linked reductase, dimerisation domain
    IPR023753 FAD/NAD(P)-binding domain
    IPR012999 Pyridine nucleotide-disulphide oxidoreductase, class I, active site
    IPR004099 Pyridine nucleotide-disulphide oxidoreductase, dimerisation domain
Molecular
Reagents
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  • All nucleic 24
    Genomic 3
    cDNA 19
    Primer pair 1
    Other 1

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-35921, MGI:2144786, MGI:2144881
References
more
  • Summaries
    All 43
    Developmental Gene Expression 4
    Gene Ontology 12
    Phenotypes 9
  • Earliest
    J:34474 Lyu MS, et al., Genetic mapping of the human and mouse phospholipase C genes. Mamm Genome. 1996 Jul;7(7):501-4
  • Latest
    J:199956 Kiss G, et al., The negative impact of alpha-ketoglutarate dehydrogenase complex deficiency on matrix substrate-level phosphorylation. FASEB J. 2013 Jun;27(6):2392-406

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory