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Sequence in raw or FASTA format:

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BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin) [Homo sapiens (human)]


RefSeq Accession Definition Services Price Order
NM_001122955 Homo sapiens Berardinelli-Seip congenital lipodystrophy 2 (seipin) (BSCL2), transcript variant 1, mRNA. ORF Sequence $402.81
Peptide Services
Antibody Services
Protein Services
NM_001130702 Homo sapiens Berardinelli-Seip congenital lipodystrophy 2 (seipin) (BSCL2), transcript variant 3, mRNA. ORF Sequence $250.56
Peptide Services
Antibody Services
Protein Services
NM_032667 Homo sapiens Berardinelli-Seip congenital lipodystrophy 2 (seipin) (BSCL2), transcript variant 2, mRNA. ORF Sequence $347.13
Peptide Services
Antibody Services
Protein Services


Gene Symbol BSCL2
Entrez Gene ID 26580
Full Name Berardinelli-Seip congenital lipodystrophy 2 (seipin)
Synonyms FLJ16651, GNG3LG, HMN5, MGC4694, SPG17
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

11

11q13

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).[provided by RefSeq, Mar 2011].
Disorder

MIM: 606158

Lipodystrophy, congenital generalized, type 2, 269700 (3); Silver

mRNA Protein Product Sequence Price Select
NM_001122955, 325910876 NP_001116427, 171906569 seipin isoform 1 Full Length $581.74
ORF Sequence $402.81
NM_001130702, 325974508 NP_001124174, 325974509 seipin isoform 3 Full Length $399.62
ORF Sequence $250.56
NM_032667, 325910878 NP_116056, 40068505 seipin isoform 2 Full Length $440.80
ORF Sequence $347.13
WikiPathways
WP236Adipogenesis
Homo sapiens (human)BSCL2NP_001116427.1
Pan troglodytes (chimpanzee)LOC100609080XP_003313147.1
Macaca mulatta (Rhesus monkey)BSCL2XP_002799560.1
Canis lupus familiaris (dog)BSCL2XP_853538.1
Bos taurus (cattle)BSCL2NP_001015589.1
Mus musculus (house mouse)Bscl2NP_001129536.1
Rattus norvegicus (Norway rat)Bscl2NP_001012171.1
Danio rerio (zebrafish)bscl2NP_001032473.1
GeneCards BSCL2
UniProt Q96G97
MIM 606158
Ensembl ENSG00000168000
HGNC 15832
HPRD 05858

Related articles in PubMed

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
seipin
Names
seipin
Bernardinelli-Seip congenital lipodystrophy type 2 protein

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