BSCL2
Identifiers
AliasesBSCL2, GNG3LG, HMN5, PELD, SPG17, Berardinelli-Seip congenital lipodystrophy 2 (seipin), seipin lipid droplet biogenesis associated, BSCL2 lipid droplet biogenesis associated, seipin, HMN5C
External IDsOMIM: 606158 MGI: 1298392 HomoloGene: 32032 GeneCards: BSCL2
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001122955
NM_001130702
NM_032667
NM_001386027
NM_001386028

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 MbChr 19: 8.81 – 8.83 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

Clinical significance

Mutations in BSCL2 are known to cause the following conditions:[8]

References

  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:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  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. S2CID 7718256.
  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)".
  8. ^ "UniProt". www.uniprot.org. Retrieved 2023-10-31.

Further reading