RELT
Function
May play a role in apoptosis (PubMed:19969290, PubMed:28688764). Induces activation of MAPK14/p38 and MAPK8/JNK MAPK cascades, when overexpressed (PubMed:16530727). Involved in dental enamel formation (PubMed:30506946).
Involvement in disease
Amelogenesis imperfecta 3C
AI3C
An autosomal recessive form of amelogenesis imperfecta, a defect of enamel formation. AI3C is characterized by generalized enamel hypocalcification affecting primary and secondary dentition. The surface of the enamel is rough and often stained. After eruption, the occlusal enamel on the molars disappears due to attrition, leaving a ring of intact enamel remaining on the sides.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated in vitro by OXSR1 (PubMed:16389068). Phosphorylated by STK39 (PubMed:16530727).
Sequence Similarities
Belongs to the RELT family.
Tissue Specificity
Spleen, lymph node, brain, breast and peripheral blood leukocytes (at protein level) (PubMed:28688764). Expressed highly in bone marrow and fetal liver. Very low levels in skeletal muscle, testis and colon. Not detected in kidney and pancreas.
Cellular localization
- Cell membrane
- Single-pass type I membrane protein
- Cytoplasm
- Cytoplasm
- Perinuclear region
Alternative names
TNFRSF19L, RELT, Tumor necrosis factor receptor superfamily member 19L, Receptor expressed in lymphoid tissues