BSCL2

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BSCL2
Identifiers
Aliases BSCL2, GNG3LG, HMN5, PELD, SPG17, Berardinelli-Seip congenital lipodystrophy 2 (seipin), seipin lipid droplet biogenesis associated
External IDs MGI: 1298392 HomoloGene: 32032 GeneCards: BSCL2
Gene location (Human)
Chromosome 11 (human)
Chr. Chromosome 11 (human)[1]
Chromosome 11 (human)
Genomic location for BSCL2
Genomic location for BSCL2
Band 11q12.3 Start 62,690,275 bp[1]
End 62,709,845 bp[1]
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
NP_001124174
NP_116056

NP_001129536
NP_001277752
NP_032170

Location (UCSC) Chr 11: 62.69 – 62.71 Mb Chr 11: 8.84 – 8.85 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Seipin is a protein that in humans is encoded by the BSCL2 gene.[5][6][7]

Clinical significance[edit]

It can be associated with Congenital generalized lipodystrophy type 2 .


References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000168000 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000071657 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ 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. 
  6. ^ 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. 
  7. ^ "Entrez Gene: BSCL2 Bernardinelli-Seip congenital lipodystrophy 2 (seipin)". 

External links[edit]

Further reading[edit]