Results for "Curved linear dimple below the lower lip": 3 genes

Name

SMAL Gene

spinal muscular atrophy, congenital nonprogressive, of lower limbs

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]