BSCL2 (Seipin, Bernardinelli-Seip Congenital Lipodystrophy Type 2 Protein)[BSCL2]

• Catalog number
  MBS642381
• Price
  Please ask
• Size
  NA

• Products_type
  Antibody
• Reactivity
  Human

• Gene target
  BSCL2   Seipin   Bernardinelli-Seip   Congenital   Lipodystrophy   Protein   [BSCL2]  
• Gene symbol
  HNRNPUL2-BSCL2, BSCL2
• Short name
  BSCL2 (Seipin, Bernardinelli-Seip Congenital Lipodystrophy 2 Protein)[BSCL2]
• Host
  Rabbit
• Alternative name
  BSCL2 (Seipin, Bernardinelli-Seip Congenital Lipodystrophy classification 2 Protein)[BSCL2]
• Disease
  congenital

Gene info

• Identity
  HGNC:49189
• Gene
  HNRNPUL2-BSCL2
• Long gene name
  HNRNPUL2-BSCL2 readthrough (NMD candidate)
• Locus
  11q12.3
• Discovery year
  2013-09-25
• Entrez gene record
  100534595
• VEGA ID
  OTTHUMG00000167772

Gene info

• Identity
  HGNC:15832
• Gene
  BSCL2
• Long gene name
  BSCL2 lipid droplet biogenesis associated, seipin
• Synonyms gene
  • GNG3LG
  • SPG17
• Synonyms gene name
  • spastic paraplegia 17 (Silver syndrome)
  • Berardinelli-Seip congenital lipodystrophy 2 (seipin)
  • BSCL2, seipin lipid droplet biogenesis associated
• Synonyms
  • seipin
• Locus
  11q12.3
• Discovery year
  2001-07-02
• Entrez gene record
  26580
• Pubmed identfication
  • 11479539
  • 14981520
• RefSeq identity
  • NM_032667
• VEGA ID
  OTTHUMG00000150624
• Locus Specific Databases
  • Inherited Peripheral Neuropathies Mutation Database
  • LRG_235

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