SPTA1

spectrin alpha, erythrocytic 1

Details

HGNC: HGNC:11272
GeneCards: SPTA1
NCBI: 6708
Ensembl: ENSG00000163554
UniProt: P02549
OMIM: 182860
UCSC: uc001fst.2
VEGA: OTTHUMG00000019636
ENA: M61877
Alias Symbols: EL2
Previous Symbols: None
Alias Names: "elliptocytosis 2"
Previous Names: "spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"

Associated Studies

Uncovering the genetic architecture of ME/CFS: a precision approach reveals impact of rare monogenic variation

2025 | Birch, Camille L.; Wilk, Brandon M.; Gajapathy, Manavalan; Hutchins, Shaurita D.; Kaur, Gurpreet; Brown, Donna M.; Mamidi, Tarun K. K.; Hodgin, Kathleen S.; Turgut, Alp; Younger, Jarred W.; Worthey, Elizabeth A.

Associated cohorts
Phenotype: ME/CFS, Post-exertional malaise (PEM)