SAMD1
Description
The SAMD1 (sterile alpha motif domain containing 1) is a protein-coding gene located on chromosome 19.
SAMD1 is a human gene.
SAMD1 acts as a transcriptional repressor by binding to unmethylated CpG islands (CGIs) that are decorated with H3K4me3. It tethers the L3MBTL3 protein to chromatin and interacts with the KDM1A histone demethylase complex, influencing the levels of H3K4me2 and H3K4me3 at CGIs. Furthermore, SAMD1 contributes to atherogenesis by binding low-density lipoprotein (LDL) on the cell surface and promoting its oxidation, which leads to the formation of foam cells.
SAMD1 is also known as -.
Associated Diseases
- cancer
- obesity due to melanocortin 4 receptor deficiency
- coronary artery disease, autosomal dominant 2
- hyperinsulinism due to INSR deficiency
- familial glucocorticoid deficiency
- hyperinsulinism due to glucokinase deficiency
- obesity due to prohormone convertase I deficiency
- obesity due to pro-opiomelanocortin deficiency
- hyperinsulinism-hyperammonemia syndrome
- thyroid hormone metabolism, abnormal, 2
- diabetes mellitus, permanent neonatal 4
- autosomal recessive hyperinsulinism due to Kir6.2 deficiency
- permanent neonatal diabetes mellitus 1
- hyperlipoproteinemia type V
- familial partial lipodystrophy, Dunnigan type
- PPARG-related familial partial lipodystrophy
