KEGG   VARIANT: 6768v1
Entry
6768v1                      Variant                                
Name
ST14 mutation
Type
Loss of function
Gene
ST14  ST14 transmembrane serine protease matriptase [KO:K08670]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606797
Network
nt06545  Cornified envelope formation
Disease
H00734  Autosomal recessive congenital ichthyosis
H00739  Ichthyosis with hypotrichosis
Reference
  Authors
Basel-Vanagaite L, Attia R, Ishida-Yamamoto A, Rainshtein L, Ben Amitai D, Lurie R, Pasmanik-Chor M, Indelman M, Zvulunov A, Saban S, Magal N, Sprecher E, Shohat M
  Title
Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase.
  Journal
Am J Hum Genet 80:467-77 (2007)
DOI:10.1086/512487
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