rs149907021
This variant is located in the BSCL2 gene.
▶ClinVar annotation
Charcot-Marie-Tooth disease type 2; not provided; Inborn genetic diseases; Hereditary spastic paraplegia; not specified; Neuronopathy, distal hereditary motor, type 5C;Severe neurodegenerative syndrome with lipodystrophy;Congenital generalized lipodystrophy type 2;Hereditary spastic paraplegia 17; Intellectual disability
View on ClinVar →About BSCL2
This gene encodes the multi-pass transmembrane 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, Jul 2024]
View all BSCL2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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