BSCL2, NT (BSCL2, Seipin, Bernardinelli-Seip congenital lipodystrophy type 2 protein)

• Catalog number
  MBS6010603
• Price
  Please ask
• Size
  0,2 mL

• Other size
  please contact us to order other different size

• Gene target
  BSCL2   BSCL2   Seipin   Bernardinelli-Seip   congenital   lipodystrophy   protein  
• Gene symbol
  HNRNPUL2-BSCL2, BSCL2
• Short name
  BSCL2, NT (BSCL2, Seipin, Bernardinelli-Seip congenital lipodystrophy 2 protein)
• Alternative name
  BSCL2, NT (BSCL2, Seipin, Bernardinelli-Seip congenital lipodystrophy classification 2 protein)
• 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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