BSCL2

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
Orthologs
Species Human Mouse
Entrez

26580

14705

Ensembl

ENSG00000168000

ENSMUSG00000071657

UniProt

Q96G97

Q9Z2E9

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 HumanView/Edit Mouse

Seipin is a protein that in humans is encoded by the BSCL2 gene.[3][4][5]

Clinical significance

It can be associated with Congenital generalized lipodystrophy type 2 .

References

  1. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. 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.
  4. 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.
  5. "Entrez Gene: BSCL2 Bernardinelli-Seip congenital lipodystrophy 2 (seipin)".

External links

Further reading


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