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Results for the Protein: Q99714
2492759

HCD2_HUMAN RecName: Full=3-hydroxyacyl-CoA dehydrogenase type-2; AltName: Full=17-beta-hydroxysteroid dehydrogenase 10; Short=17-beta-HSD 10; AltName: Full=3-hydroxy-2-methylbutyryl-CoA dehydrogenase; AltName: Full=3-hydroxyacyl-CoA dehydrogenase type II; AltName: Full=Endoplasmic reticulum-associated amyloid beta-peptide-binding protein; AltName: Full=Mitochondrial ribonuclease P protein 2; Short=Mitochondrial RNase P protein 2; AltName: Full=Short-chain type dehydrogenase/reductase XH98G2; AltName: Full=Type II HADH

Known Diseases associated with this Protein:
  17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY
  2-METHYL-3-HYDROXYBUTYRYL-COA DEHYDROGENASE DEFICIENCY (MHBD DEFICIENCY)
  MENTAL RETARDATION, X-LINKED, SYNDROMIC 10
8
0
5
0
3
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Default View:

DltE - COG0300
FabG - COG1028
COG4221 - COG4221
PKS_KR - smart00822
adh_short - pfam00106
KR - pfam08659
DltE - COG3967


Swiss-Prot Protein: Q99714
Identical to: NP_004484
   Default View:









Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
DltECOG03001.5e-075256
FabGCOG10283.3e-636258
COG4221COG42219.1e-138245
adh_shortpfam001065e-2511187
DltECOG39671.2e-0615261
PKS_KRsmart008222.6e-0511203
KRpfam086593.6e-0712204

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_015988Diseasep.ARG130CYS2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency)
Swiss-ProtVAR_032093Diseasep.ASN247SER2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency)
Swiss-ProtVAR_015987Diseasep.LEU122VAL2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency)
OMIM300256.0004 Diseasep.ARG192ARGMENTAL RETARDATION, X-LINKED, SYNDROMIC 10
OMIM300256.0001 Diseasep.ARG130CYS17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY
OMIM300256.0003 Diseasep.ASN247SER17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY
OMIM300256.0005 Diseasep.GLU249GLN17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY
OMIM300256.0002 Diseasep.LEU122VAL17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY



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