BSCL2 Gene

Alternative Names

BSCL2
Seipin
GNG3LG, Mouse, Homolog of

Length

19,584 bases

No. of Exons

No. of isoforms

Protein Name

Seipin

Molecular Mass

44392 Da

Amino Acid Count

398

Genomic Location

chr11:62,690,262-62,709,845

Gene Map Locus

11q12.3

Description

The BSCL2 gene encodes a 398-amino acid protein: seipin, which is an integral membrane protein of the endoplasmic reticulum. BSCL2 is highly expressed in most regions of the central nervous system. Mutations in the BSCL2 cause congenital generalized lipodystrophy type 2 (also known as the Berardinelli-Seip syndrome).

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_001122955.3:c.509_513delATCGT	Lebanon	NC_000011.10:g.62694688_62694692del	Pathogenic	Pathogenic	Lipodystrophy, Congenital Generalized, Type 2	NG_008461.1:g.19886_19890del; NM_001122955.3:c.509_513delATCGT ; NP_001116427.1:p.Tyr170CysfsTer6	587777608	4535
NM_001122955.3:c.864-2A>C	Oman	NC_000011.10:g.62691423T>G	Pathogenic	Pathogenic	Lipodystrophy, Congenital Generalized, Type 2	NG_008461.1:g.23152A>C; NM_001122955.3:c.864-2A>C ; NP_001116427.1:p.?	76606102	372118
NM_001122955.3:c.969G>A	Oman	NC_000011.10:g.62691316C>T		Pathogenic	Lipodystrophy, Congenital Generalized, Type 2	NG_008461.1:g.23259G>A; NM_001122955.3:c.969G>A; NP_001116427.1:p.Trp323Cys	1444410995

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External Links

http://www.emedicine.com/med/topic3523.htm http://www.genetests.org/profiles/bscl http://www.orpha.net/data/patho/GB/uk-berard.pdf

Contributors

Pratibha Nair: 07.01.2008
Eiman Ibrahim: 26.08.2007
Abeer Fareed: 27.08.2006
Ghazi O. Tadmouri: 20.08.2006
Ghazi O. Tadmouri: 16.04.2006
Ghazi O. Tadmouri: 01.05.2005
Ghazi O. Tadmouri: 11.04.2005

Edit History

Pratibha Nair: 27.04.2021
Pratibha Nair: 24.12.2018
Abdul R Hamzeh: 01.04.2015
Pratibha Nair: 24.01.2008
Pratibha Nair: 29.08.2006
Pratibha Nair: 17.05.2006
Sarah Al-Haj Ali: 03.05.2005
Sarah Al-Haj Ali: 17.04.2005
Sarah Al-Haj Ali: 20.11.2004
Sarah Al-Haj Ali: 10.11.2004

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