Gene: BSCL2

Alternate names for this Gene: GNG3LG|HMN5|PELD|SPG17

Gene Summary: This gene encodes the multi-pass transmembrane protein protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).

Gene is located in Chromosome: 11

Location in Chromosome : 11q12.3

Description of this Gene: BSCL2 lipid droplet biogenesis associated, seipin

Type of Gene: protein-coding

Gene: HNRNPUL2-BSCL2

Alternate names for this Gene: -

Gene Summary: This locus represents naturally occurring read-through transcription between the neighboring HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2) and BSCL2 (Berardinelli-Seip congenital lipodystrophy 2 (seipin)) genes on chromosome 11. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is unlikely to produce a protein product.

Gene is located in Chromosome: 11

Location in Chromosome : 11q12.3

Description of this Gene: HNRNPUL2-BSCL2 readthrough (NMD candidate)

Type of Gene: ncRNA

rs137852971 in BSCL2;HNRNPUL2-BSCL2 gene and Congenital Generalized Lipodystrophy Type 2 PMID 11479539 2001 Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.

rs137852972 in BSCL2;HNRNPUL2-BSCL2 gene and Hereditary Motor and Sensory-Neuropathy Type II PMID 16427281 2006 BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy.

PMID 25454168 2015 Clinical and electrophysiological features in a French family presenting with seipinopathy.

PMID 15732094 2005 Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation.

PMID 17387721 2007 Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases.

PMID 18585921 2008 Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17.

PMID 14981520 2004 Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.

PMID 25219579 2015 BSCL2 N88S mutation in a Portuguese patient with the Silver syndrome.

PMID 20598714 2010 N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome.

PMID 22045697 2012 Characterization of inclusion bodies with cytoprotective properties formed by seipinopathy-linked mutant seipin.

PMID 24345054 2014 Motor neuropathy-associated mutation impairs Seipin functions in neurotransmission.

PMID 23553728 2013 Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation.

PMID 21957196 2011 Molecular characterization of seipin and its mutants: implications for seipin in triacylglycerol synthesis.

PMID 25487175 2015 BSCL2 S90L mutation in a Chinese family with Silver syndrome with a review of the literature.

PMID 26815532 2016 The p.S90L was identified in a pedigree with CMT2 while the p.R96H was identified in a patient with apparently sporadic dHMN.

PMID 24604904 2014 Application of whole exome sequencing in undiagnosed inherited polyneuropathies.

PMID 17486577 2007 Identification of de novo BSCL2 Ser90Leu mutation in a Korean family with Silver syndrome and distal hereditary motor neuropathy.

rs137852972 in BSCL2;HNRNPUL2-BSCL2 gene and NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V PMID 17663003 2007 Four patients diagnosed with dHMN-V or SS carried known heterozygous BSCL2 mutations (N88S and S90L).

PMID 14981520 2004 Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.

PMID 17663003 2007 Four patients diagnosed with dHMN-V or SS carried known heterozygous BSCL2 mutations (N88S and S90L).

rs137852972 in BSCL2;HNRNPUL2-BSCL2 gene and Spastic paraplegia 17 PMID 17387721 2007 Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases.

PMID 18790819 2009 Seipinopathy: a novel endoplasmic reticulum stress-associated disease.

PMID 21750110 2011 Heterozygosity for mutations (N88S and P90L) in the N-glycosylation site of seipin/BSCL2 is associated with the autosomal dominant motor neuron diseases, spastic paraplegia 17 and distal hereditary motor neuropathy type V, referred to as 'seipinopathies'.

PMID 14981520 2004 Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.

PMID 17663003 2007 Four patients diagnosed with dHMN-V or SS carried known heterozygous BSCL2 mutations (N88S and S90L).

PMID 24604904 2014 Application of whole exome sequencing in undiagnosed inherited polyneuropathies.

PMID 18585921 2008 Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17.

PMID 17663003 2007 Four patients diagnosed with dHMN-V or SS carried known heterozygous BSCL2 mutations (N88S and S90L).