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Results for the Protein: Q15392
20141421

DHC24_HUMAN RecName: Full=Delta(24)-sterol reductase; AltName: Full=24-dehydrocholesterol reductase; AltName: Full=3-beta-hydroxysterol delta-24-reductase; AltName: Full=Diminuto/dwarf1 homolog; AltName: Full=Seladin-1; Flags: Precursor

Known Diseases associated with this Protein:
  DESMOSTEROLOSIS
  DESMOSTEROLOSIS (DESMOS)
11
0
7
0
4
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Default View:

FAD_binding_4 - pfam01565


Swiss-Prot Protein: Q15392
Identical to: NP_055577
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
FAD_binding_4pfam015653.3e-0564203

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_012733Diseasep.ASN294THRDesmosterolosis (DESMOS)
Swiss-ProtVAR_012732Diseasep.GLU191LYSDesmosterolosis (DESMOS)
Swiss-ProtVAR_012734Diseasep.LYS306ASNDesmosterolosis (DESMOS)
Swiss-ProtVAR_012735Diseasep.TYR471SERDesmosterolosis (DESMOS)
OMIM606418.0004 Diseasep.ARG103CYSDESMOSTEROLOSIS
OMIM606418.0005 Diseasep.ARG94HISDESMOSTEROLOSIS
OMIM606418.0002 Diseasep.ASN294THRDESMOSTEROLOSIS
OMIM606418.0003 Diseasep.GLU191LYSDESMOSTEROLOSIS
OMIM606418.0006 Diseasep.GLU480LYSDESMOSTEROLOSIS
OMIM606418.0002 Diseasep.LYS306ASNDESMOSTEROLOSIS
OMIM606418.0001 Diseasep.TYR471SERDESMOSTEROLOSIS



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