" /> BSCL2 wt Allele - CISMeF





Preferred Label : BSCL2 wt Allele;

NCIt synonyms : HMN5; PELD; GNG3LG; SPG17; HMN5C; Spastic Paraplegia 17 (Silver Syndrome) Gene; HMND13; Berardinelli-Seip Congenital Lipodystrophy 2 (Seipin) Gene; GNG3LG, Mouse, Homolog of Gene; BSCL2 Lipid Droplet Biogenesis Associated, Seipin wt Allele; BSCL2, Seipin Lipid Droplet Biogenesis Associated Gene;

NCIt definition : Human BSCL2 wild-type allele is located in the vicinity of 11q12.3 and is approximately 21 kb in length. This allele, which encodes seipin protein, is involved in the formation of lipid droplets. Mutations in the gene are associated with Berardinelli-Seip congenital lipodystrophy 2.;

GenBank Accession Number : NM_032667;

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29/07/2025


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