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Results for the Protein: NP_001073336
121114290

peroxisomal biogenesis factor 2 [Homo sapiens]

Known Diseases associated with this Protein:
  PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
  PEROXISOME BIOGENESIS DISORDER 5B
  PEROXISOME BIOGENESIS DISORDER 5B, INCLUDED
2
1
2
1
0
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Default View:

Pex2_Pex12 - pfam04757
RING - cd00162
RING - smart00184
zf-C3HC4 - pfam00097




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
RINGcd001624.2e-06243287
Pex2_Pex12pfam047573.3e-4126227
zf-C3HC4pfam000977.5e-06244283
RINGsmart001842.8e-06244283

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs112108739 Polymorphismp.ALA245THRN/A
OMIM170993.0001 Diseasep.ARG118TERPEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)||PEROXISOME BIOGENESIS DISORDER 5B, INCLUDED
OMIM170993.0002 Diseasep.GLU55LYSPEROXISOME BIOGENESIS DISORDER 5B



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