BSCL2

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Berardinelli-Seip congenital lipodystrophy 2 (seipin)
Identifiers
Symbols BSCL2 ; GNG3LG; HMN5; SPG17
External IDs OMIM606158 MGI1298392 HomoloGene32032 GeneCards: BSCL2 Gene
Orthologs
Species Human Mouse
Entrez 26580 14705
Ensembl ENSG00000168000 ENSMUSG00000071657
UniProt Q96G97 Q9Z2E9
RefSeq (mRNA) NM_001122955 NM_001136064
RefSeq (protein) NP_001116427 NP_001129536
Location (UCSC) Chr 11:
62.46 – 62.48 Mb
Chr 19:
8.84 – 8.85 Mb
PubMed search [1] [2]

Seipin is a protein that in humans is encoded by the BSCL2 gene.[1][2][3]

Clinical significance[edit]

It can be associated with Congenital generalized lipodystrophy type 2 .


References[edit]

  1. ^ Magre J, Delepine M, Khallouf E, Gedde-Dahl T Jr, Van Maldergem L, Sobel E, Papp J, Meier M, Megarbane A, Bachy A, Verloes A, d'Abronzo FH, Seemanova E, Assan R, Baudic N, Bourut C, Czernichow P, Huet F, Grigorescu F, de Kerdanet M, Lacombe D, Labrune P, Lanza M, Loret H, Matsuda F, Navarro J, Nivelon-Chevalier A, Polak M, Robert JJ, Tric P, Tubiana-Rufi N, Vigouroux C, Weissenbach J, Savasta S, Maassen JA, Trygstad O, Bogalho P, Freitas P, Medina JL, Bonnicci F, Joffe BI, Loyson G, Panz VR, Raal FJ, O'Rahilly S, Stephenson T, Kahn CR, Lathrop M, Capeau J (Jul 2001). "Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13". Nat Genet 28 (4): 365–70. doi:10.1038/ng585. PMID 11479539. 
  2. ^ Windpassinger C, Auer-Grumbach M, Irobi J, Patel H, Petek E, Horl G, Malli R, Reed JA, Dierick I, Verpoorten N, Warner TT, Proukakis C, Van den Bergh P, Verellen C, Van Maldergem L, Merlini L, De Jonghe P, Timmerman V, Crosby AH, Wagner K (Feb 2004). "Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome". Nat Genet 36 (3): 271–6. doi:10.1038/ng1313. PMID 14981520. 
  3. ^ "Entrez Gene: BSCL2 Bernardinelli-Seip congenital lipodystrophy 2 (seipin)". 

External links[edit]

Further reading[edit]