BSCL2

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BSCL2
Identifiers
Aliases BSCL2, GNG3LG, HMN5, PELD, SPG17, Berardinelli-Seip congenital lipodystrophy 2 (seipin)
External IDs MGI: 1298392 HomoloGene: 32032 GeneCards: 26580
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001122955
NM_001130702
NM_032667

NM_001136064
NM_001290823
NM_008144

RefSeq (protein)

NP_001116427.1
NP_001124174.2
NP_116056.3

NP_001129536.1
NP_001277752.1
NP_032170.3

Location (UCSC) Chr 11: 62.69 – 62.71 Mb Chr 19: 8.84 – 8.85 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

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]