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Results for the Protein: P51659
1706396

DHB4_HUMAN RecName: Full=Peroxisomal multifunctional enzyme type 2; Short=MFE-2; AltName: Full=17-beta-hydroxysteroid dehydrogenase 4; Short=17-beta-HSD 4; AltName: Full=D-bifunctional protein; Short=DBP; AltName: Full=Multifunctional protein 2; Short=MPF-2; Contains: RecName: Full=(3R)-hydroxyacyl-CoA dehydrogenase; Contains: RecName: Full=Enoyl-CoA hydratase 2; AltName: Full=3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase

Known Diseases associated with this Protein:
  D-BIFUNCTIONAL PROTEIN DEFICIENCY
  D-BIFUNCTIONAL PROTEIN DEFICIENCY (DBPD)
  PERRAULT SYNDROME 1
  PERRAULT SYNDROME 1 (PRLTS1)
8
11
4
7
8
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

DltE - COG0300
COG4221 - COG4221
DltE - COG3967
FabG - COG1028
adh_short - pfam00106
PKS_KR - smart00822
KR - pfam08659
MaoC - COG2030
MaoC_dehydratas - pfam01575
HDE_HSD - cd03448
R_hydratase_like - cd03441
FAS_MaoC - cd03447
SAV4209_like - cd03453
hot_dog - cd03440
MaoC_like - cd03446
SCP2 - pfam02036


Swiss-Prot Protein: P51659
Identical to: NP_000405
   Default View:










Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
DltECOG03005.3e-094266
FabGCOG10282.2e-615244
HDE_HSDcd034483.1e-88485606
R_hydratase_likecd034417.8e-34487606
FAS_MaoCcd034472.6e-11487607
hot_dogcd034400.00056490606
SAV4209_likecd034535.2e-06490604
MaoC_likecd034460.00014507606
COG4221COG42212.3e-114243
DltECOG39671.7e-055262
adh_shortpfam001062.8e-2910183
MaoCCOG20306.1e-13469611
MaoC_dehydrataspfam015755.3e-52480601
SCP2pfam020362.1e-34628731
PKS_KRsmart008221.1e-0610185
KRpfam086592.4e-0811182

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_052313Polymorphismp.ALA606SERN/A
Swiss-ProtVAR_052312Polymorphismp.ALA491THRN/A
Swiss-ProtVAR_052311Polymorphismp.ALA427VALN/A
dbSNPrs25640 Polymorphismp.ARG106HISN/A
Swiss-ProtVAR_065906Diseasep.ARG106PROD-bifunctional protein deficiency (DBPD)
Swiss-ProtVAR_065908Diseasep.ASN457TYRD-bifunctional protein deficiency (DBPD)
Swiss-ProtVAR_037576Diseasep.GLY16SERD-bifunctional protein deficiency (DBPD)
dbSNPrs11205 Polymorphismp.ILE559VALN/A
dbSNPrs28943589 Polymorphismp.LYS140ASNN/A
dbSNPrs28943594 Polymorphismp.MET728VALN/A
Swiss-ProtVAR_052309Polymorphismp.PHE90LEUN/A
dbSNPrs28943592 Polymorphismp.THR687ILEN/A
dbSNPrs1143650 Polymorphismp.THR292SERN/A
dbSNPrs11539471 Polymorphismp.TRP511ARGN/A
Swiss-ProtVAR_065907Diseasep.TYR217CYSPerrault syndrome 1 (PRLTS1)
OMIM601860.0005 Diseasep.ARG81PROD-BIFUNCTIONAL PROTEIN DEFICIENCY
OMIM601860.0004 Diseasep.ASN432TYRD-BIFUNCTIONAL PROTEIN DEFICIENCY
OMIM601860.0008 Diseasep.TYR192CYSPERRAULT SYNDROME 1
OMIM601860.0009 Diseasep.TYR543TERPERRAULT SYNDROME 1



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