Sick Genes (Old version)
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SPG11
SPG11 vesicle trafficking associated, spatacsin
Details
HGNC:
HGNC:11226
GeneCards:
SPG11
NCBI:
80208
Ensembl:
ENSG00000104133
UniProt:
Q96JI7
OMIM:
610844
UCSC:
uc001ztx.4
VEGA:
OTTHUMG00000131199
ENA:
None
Alias Symbols:
FLJ21439
Previous Symbols:
KIAA1840, ALS5
Alias Names:
"spatacsin"
Previous Names:
"KIAA1840", "spastic paraplegia 11 (autosomal recessive)", "amyotrophic lateral sclerosis 5"
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)