KEGG   VARIANT: 1311v1
Entry
1311v1                      Variant                                
Name
COMP mutation
Gene
COMP  cartilage oligomeric matrix protein [KO:K04659]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600310
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00476  Multiple epiphyseal dysplasia
H00477  Pseudoachondroplasia
H00798  Familial carpal tunnel syndrome
Reference
PMID:11782471
  Authors
Kleerekoper Q, Hecht JT, Putkey JA
  Title
Disease-causing mutations in cartilage oligomeric matrix protein cause an unstructured Ca2+ binding domain.
  Journal
J Biol Chem 277:10581-9 (2002)
DOI:10.1074/jbc.M109944200
Reference
PMID:32686688
  Authors
Li C, Wang N, Schaffer AA, Liu X, Zhao Z, Elliott G, Garrett L, Choi NT, Wang Y, Wang Y, Wang C, Wang J, Chan D, Su P, Cui S, Yang Y, Gao B
  Title
Mutations in COMP cause familial carpal tunnel syndrome.
  Journal
Nat Commun 11:3642 (2020)
DOI:10.1038/s41467-020-17378-z
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