KEGG   VARIANT: 823v1
Entry
823v1                      Variant                                 
Name
CAPN1 mutation
Type
Loss of function
Gene
CAPN1  calpain-1 catalytic subunit [KO:K01367]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 114220
Network
nt06539  Cytoskeleton in muscle cells
nt06545  Cornified envelope formation
Disease
H00266  Hereditary spastic paraplegia
Reference
PMID:35126465
  Authors
Perez-Siles G, Ellis M, Ashe A, Grosz B, Vucic S, Kiernan MC, Morris KA, Reddel SW, Kennerson ML
  Title
A Compound Heterozygous Mutation in Calpain 1 Identifies a New Genetic Cause for Spinal Muscular Atrophy Type 4 (SMA4).
  Journal
Front Genet 12:801253 (2021)
DOI:10.3389/fgene.2021.801253
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