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Gene : ERLIN1 Homo sapiens

Name  ? ER lipid raft associated 1 Cytological Location  10q24.31
Brief Description  ER lipid raft associated 1
Description  The protein encoded by this gene is part of a protein complex that mediates degradation of inositol 1,4,5-trisphosphate receptors in the endoplasmic reticulum. The encoded protein also binds cholesterol and regulates the SREBP signaling pathway, which promotes cellular cholesterol homeostasis. Defects in this gene have been associated with spastic paraplegia 62. [provided by RefSeq, Dec 2016]
  • synonyms:
  • AF064093,
  • SPG62,
  • uc001kqn.5,
  • Band_7 23-211 Keo4 (Interim) similar to C.elegans protein C42C1.9,
  • KEO4,
  • NM_006459,
  • Erlin-1,
  • C10orf69,
  • HGNC:16947,
  • chromosome 10 open reading frame 69,
  • SPG62,
  • SPFH domain family, member 1,
  • C10orf69,
  • Erlin-1,
  • SPFH1,
  • SPFH1,
  • KE04,
  • OTTHUMG00000018900,
  • ERLIN1,
  • KE04
  • identifiers:
  • 10613,
  • ENSG00000107566,
  • ERLIN1

Genome feature

Region: gene ? Length: 35936  
Location: 10:100150094-100186029 reverse strand Cyto location: 10q24.31


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Disease

1 Diseases

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704 SN Ps

5 Cross References

19 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results