110 results
Gene Diseases: 3-methylglutaconic aciduria

HTRA2

(Homo sapiens)
Gene
Name: HtrA serine peptidase 2
Synonyms: serine proteinase OMI, PARK13, Omi stress-regulated endoprotease, protease, serine, 25, serine protease 25, high temperature requirement protein A2, OMI, PRSS25, serine protease HTRA2, mitochondrial, HtrA-like serine protease, MGCA8
Source: HGNC:14348
Biotype: protein coding gene

CLPB

(Homo sapiens)
Gene
Name: ClpB family mitochondrial disaggregase
Synonyms: MGCA7, SKD3, ANKCLB, ankyrin-repeat containing bacterial clp fusion, ClpB homolog, mitochondrial AAA ATPase chaperonin, caseinolytic peptidase B protein homolog, testicular secretory protein Li 11, MEGCANN, MGCA7A, suppressor of potassium transport defect 3, ANKCLP, mitochondrial disaggregase, FLJ13152, caseinolytic mitochondrial matrix peptidase chaperone subunit B, HSP78, ClpB caseinolytic peptidase B homolog, SCN9
Source: HGNC:30664
Biotype: protein coding gene

TIM50

(Saccharomyces cerevisiae)
Gene
Name: Translocase of the Inner Mitochondrial membrane
Synonyms: YPL063W
Source: SGD:S000005984
Biotype: protein coding gene

Auh

(Mus musculus)
Gene
Name: AU RNA binding protein/enoyl-coenzyme A hydratase
Synonyms: expressed sequence W91705, W91705, expressed sequence C77140, C77140
Source: MGI:1338011
Biotype: protein coding gene

HSP104

(Saccharomyces cerevisiae)
Gene
Name: Heat Shock Protein
Synonyms: YLL026W
Source: SGD:S000003949
Biotype: protein coding gene

TAFAZZIN

(Homo sapiens)
Gene
Name: tafazzin, phospholipid-lysophospholipid transacylase
Synonyms: BTHS, Taz1, EFE, G4.5, transcriptional coactivator with PDZ-binding motif, XAP-2, CMD3A, TAZ, FLJ27390, LVNCX, EFE2
Source: HGNC:11577
Biotype: protein coding gene

FKBP1A

(Homo sapiens)
Gene
Name: FKBP prolyl isomerase 1A
Synonyms: FKBP1, FK506 binding protein 1A, 12kDa, peptidyl-prolyl cis-trans isomerase FKBP1A, PKC12, rotamase, FKBP12, FK506 binding protein12, 12 kDa FKBP, FK506 binding protein 1A, PPIase FKBP1A, FK506-binding protein, T-cell, 12-kD, FKBP-1A, FK506-binding protein 1, 12 kDa FK506-binding protein, calstabin-1, immunophilin FKBP12, FKBP12-Exip3, PPIASE, FKBP-12, FK506-binding protein 1A (12kD), fk506-binding protein 1a, FK506-binding protein 12, FKBP12C, PKCI2, calstabin 1, protein kinase C inhibitor 2
Source: HGNC:3711
Biotype: protein coding gene

DNAJC19

(Homo sapiens)
Gene
Name: DnaJ heat shock protein family (Hsp40) member C19
Synonyms: FLJ99060, Pam18, TIMM14, homolog of yeast TIM14, DnaJ-like protein subfamily C member 19, TIM14, mitochondrial import inner membrane translocase subunit TIM14, DnaJ (Hsp40) homolog, subfamily C, member 19
Source: HGNC:30528
Biotype: protein coding gene

FPR1

(Saccharomyces cerevisiae)
Gene
Name: Fk 506-sensitive Proline Rotamase
Synonyms: FKB1, RBP1, YNL135C
Source: SGD:S000005079
Biotype: protein coding gene

OPA3

(Homo sapiens)
Gene
Name: outer mitochondrial membrane lipid metabolism regulator OPA3
Synonyms: MGC75494, optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia), FLJ22187, MGA3, 3-methylglutaconic aciduria type III, FLJ25932, optic atrophy 3 protein, OPA3 outer mitochondrial membrane lipid metabolism regulator, OPA3, outer mitochondrial membrane lipid metabolism regulator, Optic atrophy 3 (Iraqi-Jewish 'optic atrophy plus')
Source: HGNC:8142
Biotype: protein coding gene

CG10383

(Drosophila melanogaster)
Gene
Name: Not Available
Synonyms: Not Available
Source: FB:FBgn0032699
Biotype: protein coding gene

Clpb

(Mus musculus)
Gene
Name: ClpB caseinolytic peptidase B
Synonyms: Skd3, suppressor of K+ transport defect 3, AL118244, expressed sequence AL118244
Source: MGI:1100517
Biotype: protein coding gene

clpb

(Danio rerio)
Gene
Name: ClpB family mitochondrial disaggregase
Synonyms: si:ch1073-119b3.1
Source: ZFIN:ZDB-GENE-150227-1
Biotype: protein coding gene

Echdc2

(Mus musculus)
Gene
Name: enoyl Coenzyme A hydratase domain containing 2
Synonyms: D4Ertd765e, DNA segment, Chr 4, ERATO Doi 765, expressed, RIKEN cDNA 2610009M20 gene, 1300017C12Rik, 2610009M20Rik, RGD1308525, RIKEN cDNA 1300017C12 gene
Source: MGI:1289238
Biotype: protein coding gene

ECHDC2

(Homo sapiens)
Gene
Name: enoyl-CoA hydratase domain containing 2
Synonyms: FLJ99576, FLJ45240, FLJ10948, FLJ52213, MGC57155, FLJ78805, DKFZp686K13244, enoyl CoA hydratase domain containing 2, enoyl Coenzyme A hydratase domain containing 2, enoyl-CoA hydratase domain-containing protein 2, mitochondrial, FLJ51075, DKFZp686F0985, FLJ52450
Source: HGNC:23408
Biotype: protein coding gene

Tafazzin

(Mus musculus)
Gene
Name: tafazzin, phospholipid-lysophospholipid transacylase
Synonyms: AW552613, expressed sequence AW552613, RIKEN cDNA 9130012G04 gene, G4.5, RIKEN cDNA 5031411C02 gene, AW107266, 9130012G04Rik, expressed sequence AW107266, 5031411C02Rik, Taz, tafazzin
Source: MGI:109626
Biotype: protein coding gene

Fkbp12

(Drosophila melanogaster)
Gene
Name: FK506-binding protein 12kD
Synonyms: calstabin, FK506-BP2, FKBP12, DrFKBP12, FK506-binding protein, 143729_at, FKBP, DmFKBP12, Fk506-bp2, 11001, dFKBP12, fkbp, Calstabin, FK506-bp2, CG11001, FK506-binding protein 2
Source: FB:FBgn0013954
Biotype: protein coding gene

HSP78

(Saccharomyces cerevisiae)
Gene
Name: Heat Shock Protein
Synonyms: YDR258C
Source: SGD:S000002666
Biotype: protein coding gene

Opa3

(Mus musculus)
Gene
Name: optic atrophy 3
Synonyms: Gm472, Gm1425, RIKEN cDNA D630048P19 gene, gene model 1425, (NCBI), D630048P19Rik, LOC384570, gene model 472, (NCBI), LOC243868
Source: MGI:2686271
Biotype: protein coding gene

Clpb

(Rattus norvegicus)
Gene
Name: ClpB family mitochondrial disaggregase
Synonyms: Skd3, mitochondrial disaggregase, ClpB caseinolytic peptidase B homolog (E. coli), suppressor of K+ transport defect 3, ClpB homolog, mitochondrial AAA ATPase chaperonin, caseinolytic peptidase B protein homolog, caseinolytic mitochondrial matrix peptidase chaperone subunit B, ClpB caseinolytic peptidase B homolog, suppressor of potassium transport defect 3
Source: RGD:621328
Biotype: protein coding gene

MRS2

(Homo sapiens)
Gene
Name: magnesium transporter MRS2
Synonyms: MRS2 magnesium homeostasis factor homolog, MGC78523, MRS2 magnesium transporter, MRS2-like, magnesium homeostasis factor, putative magnesium transporter, MRS2-like protein, MRS2L, HPT, MRS2, magnesium transporter, magnesium transporter MRS2 homolog, mitochondrial
Source: HGNC:13785
Biotype: protein coding gene

FKBP1C

(Homo sapiens)
Gene
Name: FKBP prolyl isomerase family member 1C
Synonyms: peptidyl-prolyl cis-trans isomerase FKBP1C, FK506 binding protein 1C, bA184C23.2, FKBP prolyl isomerase 1C
Source: HGNC:21376
Biotype: protein coding gene

TIMM50

(Homo sapiens)
Gene
Name: translocase of inner mitochondrial membrane 50
Synonyms: TIM50, mitochondrial import inner membrane translocase subunit TIM50, translocase of inner mitochondrial membrane 50 homolog, TIM50L, Tim50-like protein, homolog of yeast Tim50, MGC102733, MGCA9
Source: HGNC:23656
Biotype: protein coding gene

Fkbp1a

(Mus musculus)
Gene
Name: FK506 binding protein 1a
Synonyms: Fkbp1, Fkbp, Fkbp2, FKBP12, FK506 binding protein, FK506 binding protein 1, 12 kDa
Source: MGI:95541
Biotype: protein coding gene

PAM18

(Saccharomyces cerevisiae)
Gene
Name: Presequence translocase-Associated Motor
Synonyms: TIM14, YLR008C
Source: SGD:S000003998
Biotype: protein coding gene

TAZ1

(Saccharomyces cerevisiae)
Gene
Name: TAfaZzin
Synonyms: YPR140W
Source: SGD:S000006344
Biotype: protein coding gene

Dnajc19

(Mus musculus)
Gene
Name: DnaJ heat shock protein family (Hsp40) member C19
Synonyms: RGD1560220, AA959924, expressed sequence AA959924, 1810055D05Rik, RIKEN cDNA 1810055D05 gene
Source: MGI:1914963
Biotype: protein coding gene

Htra2

(Mus musculus)
Gene
Name: HtrA serine peptidase 2
Synonyms: motor neuron degeneration 2, protease, serine, 25, Prss25, expressed sequence AI481710, OMI, HtrA2, AI481710, mnd2
Source: MGI:1928676
Biotype: protein coding gene

ttm2

(Drosophila melanogaster)
Gene
Name: tiny tim 2
Synonyms: 20130405, CG12313
Source: FB:FBgn0035124
Biotype: protein coding gene

Mrs2

(Mus musculus)
Gene
Name: MRS2 magnesium transporter
Synonyms: MRS2-like, magnesium homeostasis factor (S. cerevisiae), LOC380836, gene model 902, (NCBI), Rpt, Mrs2l, Gm902
Source: MGI:2685748
Biotype: protein coding gene

ttm50

(Drosophila melanogaster)
Gene
Name: tiny tim 50
Synonyms: i90, EG:95B7.3, Gp99, 17944223, Ttm50, i238, CG2713
Source: FB:FBgn0250874
Biotype: protein coding gene

si:dkey-10b15.8

(Danio rerio)
Gene
Name: si:dkey-10b15.8
Synonyms: Not Available
Source: ZFIN:ZDB-GENE-141212-238
Biotype: protein coding gene

CG7394

(Drosophila melanogaster)
Gene
Name: Not Available
Synonyms: D.M.UKP, BcDNA:RE52392, TIM14
Source: FB:FBgn0036173
Biotype: protein coding gene

CG8778

(Drosophila melanogaster)
Gene
Name: Not Available
Synonyms: Enoyl-CoA hydratase
Source: FB:FBgn0033761
Biotype: protein coding gene

mrs2

(Danio rerio)
Gene
Name: magnesium transporter MRS2
Synonyms: Not Available
Source: ZFIN:ZDB-GENE-141211-29
Biotype: protein coding gene

tafazzin

(Danio rerio)
Gene
Name: tafazzin, phospholipid-lysophospholipid transacylase
Synonyms: wu:fb39f12, taz, zgc:91803
Source: ZFIN:ZDB-GENE-030131-684
Biotype: protein coding gene

Htra2

(Rattus norvegicus)
Gene
Name: HtrA serine peptidase 2
Synonyms: protease, serine, 25, Prss25, high temperature requirement protein A2, serine protease HTRA2, mitochondrial, LOC297376
Source: RGD:1308906
Biotype: protein coding gene

htra2-10

(Danio rerio)
Gene
Name: HtrA serine peptidase 2-10
Synonyms: si:dkey-33c12.13, zgc:173425
Source: ZFIN:ZDB-GENE-081028-17
Biotype: protein coding gene

scpl-4

(Caenorhabditis elegans)
Gene
Name: SCP (Small C-terminal domain Phosphatase)-Like phosphatase 4
Synonyms: T21C9.12, CELE_T21C9.12
Source: WB:WBGene00011897
Biotype: protein coding gene

opa3

(Danio rerio)
Gene
Name: outer mitochondrial membrane lipid metabolism regulator OPA3
Synonyms: Not Available
Source: ZFIN:ZDB-GENE-050210-1
Biotype: protein coding gene

mest

(Danio rerio)
Gene
Name: mesoderm specific transcript
Synonyms: peg1/mest, peg1
Source: ZFIN:ZDB-GENE-991111-5
Biotype: protein coding gene

opa3.L

(Xenopus laevis)
Gene
Name: optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
Synonyms: opa3.L, optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
Source: Xenbase:XB-GENE-17336062
Biotype: gene

opa3

(Xenopus tropicalis)
Gene
Name: optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
Synonyms: optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia), opa3
Source: Xenbase:XB-GENE-941637
Biotype: gene

Auh

(Rattus norvegicus)
Gene
Name: AU RNA binding methylglutaconyl-CoA hydratase
Synonyms: AU RNA binding protein/enoyl-Coenzyme A hydratase, itaconyl-CoA hydratase, AU-specific RNA-binding enoyl-CoA hydratase, AU-binding enoyl-CoA hydratase, methylglutaconyl-CoA hydratase, mitochondrial, 3-MG-CoA hydratase, AU RNA binding protein/enoyl-CoA hydratase, LOC361215
Source: RGD:1306087
Biotype: protein coding gene

Mest

(Mus musculus)
Gene
Name: mesoderm specific transcript
Synonyms: AA408879, AI256745, expressed sequence AA408879, Peg1, EST AI256745
Source: MGI:96968
Biotype: protein coding gene

ttm3

(Drosophila melanogaster)
Gene
Name: tiny tim 3
Synonyms: CG6691
Source: FB:FBgn0032971
Biotype: protein coding gene

Fkbp1a

(Rattus norvegicus)
Gene
Name: FKBP prolyl isomerase 1A
Synonyms: 12 kDa FK506-binding protein, peptidyl-prolyl cis-trans isomerase FKBP1A, FK506 binding protein 2, immunophilin FKBP12, rotamase, FKBP12, MGC156543, FKBP-12, 12 kDa FKBP, Fkbp2, FK506 binding protein 1a, FK506-binding protein 1 (12kD), PPIase FKBP1A, FK506 binding protein 2 (13 kDa), FK506-binding protein 1a, FKBP-1A
Source: RGD:2617
Biotype: protein coding gene

MRS2

(Saccharomyces cerevisiae)
Gene
Name: Mitochondrial RNA Splicing
Synonyms: YOR334W
Source: SGD:S000005861
Biotype: protein coding gene

Echdc2

(Rattus norvegicus)
Gene
Name: enoyl CoA hydratase domain containing 2
Synonyms: similar to hypothetical protein D4Ertd765e, enoyl Coenzyme A hydratase domain containing 2, LOC298381, RGD1308525, enoyl-CoA hydratase domain-containing protein 2, mitochondrial
Source: RGD:1308525
Biotype: protein coding gene

dnajc19.L

(Xenopus laevis)
Gene
Name: DnaJ heat shock protein family (Hsp40) member C19
Synonyms: dnajc19.L, DnaJ heat shock protein family (Hsp40) member C19, LOC549696
Source: Xenbase:XB-GENE-5842970
Biotype: gene