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Search Thermo Fisher Scientific
FIGURE: 1 / 2
Sequence of this protein is as follows: MVNDPPVPAL LWAQEVGQVL AGRARRLLLQ FGVLFCTILL LLWVSVFLYG SFYYSYMPTV SHLSPVHFYY RTDCDSSTTS LCSFPVANVS LTKGGRDRVL MYGQPYRVTL ELELPESPVN QDLGMFLVTI SCYTRGGRII STSSRSVMLH YRSDLLQMLD TLVFSSLLLF GFAEQKQLLE VELYADYREN SYVPTTGAII EIHSKRIQLY GAYLRIHAHF TGLRYLLYNF PMTCAFIGVA SNFTFLSVIV LFSYMQWVWG GIWPRHRFSL QVNIRKRDNS RKEVQRRISA HQPGAGPEGQ EESTPQSDVT EDGESPEDPS GTEGQLSEEE KPDQQPLSGE EELEPEASDG SGSWEDAALL TEANLPAPAP ASASAPVLET LGSSEPAGGA LRQRPTCSSS
This gene encodes protein seipin, which is located in the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
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Protein Aliases: Berardinelli-Seip congenital lipodystrophy 2 (seipin); Bernardinelli-Seip congenital lipodystrophy type 2 protein; Seipin
Gene Aliases: BSCL2; GNG3LG; HMN5; PELD; SPG17
UniProt ID: (Human) Q96G97
Entrez Gene ID: (Human) 26580
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