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

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