SPIN4
Function
Binds to acetylated and methylated histones, including H3K4me3 and H4K20me3, probably acting as a histone reader that recognizes chromatin marks and mediates downstream cellular effects (PubMed:29061846, PubMed:36927955). Promotes canonical WNT signaling, and is involved in the down-regulation of cell proliferation (PubMed:36927955).
Involvement in disease
Lui-Jee-Baron syndrome
LJBS
An X-linked disorder characterized by prenatal onset, generalized overgrowth, extreme tall stature, enlarged liver and spleen, macrocephaly, dysmorphic features, and normal development. Hemizygous males are more severely affected than heterozygous females.
None
The disease may be caused by variants affecting the gene represented in this entry. A variant causing frameshift and truncation of the SPIN4 protein has been found in one family with Lui-Jee-Baron syndrome. In mice, SPIN4 truncating mutations result in features recapitulating the human disease, including generalized overgrowth and increased longitudinal bone growth. Growth plate analysis of mutant mice reveales increased cell proliferation in the proliferative zone and an increased number of progenitor chondrocytes in the resting zone.
Sequence Similarities
Belongs to the SPIN/STSY family.
Cellular localization
- Cytoplasm
- Nucleus
Alternative names
Spindlin-4, SPIN4