Entrez Summary: The protein encoded by this gene belongs to the ERG4/ERG24 family. It localized in the nuclear envelope inner membrane and anchors the lamina and the heterochromatin to the membrane. It may mediate interaction between chromatin and lamin B. Mutations of this gene has been associated with autosomal recessive HEM/Greenberg skeletal dysplasia. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008].
UniProt Summary: Anchors the lamina and the heterochromatin to the inner nuclear membrane. {ECO:0000269|PubMed:10828963}.
Pfam DomainsGO Terms
Pfam Domains
LBR tudor
DUF1295
ERG4 ERG24
GO Terms
delta14-sterol reductase activity
neutrophil differentiation
chromo shadow domain binding
NADPH binding
lamin binding
integral component of nuclear inner membrane
granulocyte differentiation
cholesterol biosynthetic process
secondary alcohol biosynthetic process
nuclear inner membrane
sterol biosynthetic process
myeloid leukocyte differentiation
alcohol biosynthetic process
cholesterol metabolic process
steroid biosynthetic process
secondary alcohol metabolic process
sterol metabolic process
nuclear envelope
organic hydroxy compound biosynthetic process
myeloid cell differentiation
nuclear membrane
steroid metabolic process
alcohol metabolic process
leukocyte differentiation
organic hydroxy compound metabolic process
hemopoiesis
lipid biosynthetic process
small molecule biosynthetic process
hematopoietic or lymphoid organ development
immune system development
endoplasmic reticulum membrane
oxidation-reduction process
lipid metabolic process
organic cyclic compound biosynthetic process
RNA binding
DNA binding
small molecule metabolic process
membrane
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)