Results for "Linear arrays of macular hyperkeratoses in flexural areas": 9 genes

Name

OTULIN Gene

OTU deubiquitinase with linear linkage specificity

This gene encodes a member of the peptidase C65 family of ubiquitin isopeptidases. Members of this family remove ubiquitin from proteins. The encoded enzyme specifically recognizes and removes M1(Met1)-linked, or linear, ubiquitin chains from protein substrates. Linear ubiquitin chains are known to regulate the NF-kappa B signaling pathway in the context of immunity and inflammation. Mutations in this gene cause a potentially fatal autoinflammatory syndrome in human patients. [provided by RefSeq, Sep 2016]

OTULINL Gene

OTU deubiquitinase with linear linkage specificity like

Located in cytoplasmic side of endoplasmic reticulum membrane and nuclear envelope. [provided by Alliance of Genome Resources, Mar 2025]

EBM Gene

epidermolysis bullosa, macular type

MCDR3 Gene

macular dystrophy, retinal 3

MCDR1 Gene

macular dystrophy, retinal, 1 (North Carolina type)

MCDR4 Gene

macular dystrophy, retinal, 4 (North Carolina type with progressive sensorineural hearing loss)

CYMD Gene

cystoid macular dystrophy

VMD1 Gene

vitelliform macular dystrophy, atypical

MDBS2 Gene

butterfly-shaped pigmentary macular dystrophy 2