Sick Genes (Old version)
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BSCL2
BSCL2 lipid droplet biogenesis associated, seipin
Details
HGNC:
HGNC:15832
GeneCards:
BSCL2
NCBI:
26580
Ensembl:
ENSG00000168000
UniProt:
Q96G97
OMIM:
606158
UCSC:
uc001nup.4
VEGA:
OTTHUMG00000150624
ENA:
None
Alias Symbols:
seipin
Previous Symbols:
GNG3LG, SPG17
Alias Names:
None
Previous Names:
"spastic paraplegia 17 (Silver syndrome)", "Berardinelli-Seip congenital lipodystrophy 2 (seipin)", "BSCL2, seipin lipid droplet biogenesis associated"
Associated Studies
Transcriptional reprogramming primes CD8+ T cells toward exhaustion in Myalgic encephalomyelitis/chronic fatigue syndrome
2024 | Iu et al
Phenotype:
ME/CFS
,
ME/CFS - CCC criteria
,
ME/CFS - IOM (Institute of Medicine) 2015 criteria
,
Post-exertional malaise (PEM)