DLK1
Description
The DLK1 (delta like non-canonical Notch ligand 1) is a protein-coding gene located on chromosome 14.
DLK1, also known as protein delta homolog 1, delta like non-canonical Notch ligand 1, fetal antigen 1, or preadipocyte factor 1, is a protein encoded by the DLK1 gene in humans. It is expressed as a transmembrane protein, but a soluble form cleaved by ADAM17 is active in inhibiting adipogenesis, the differentiation of pre-adipocytes into adipocytes. DLK1 is a member of the EGF-like family of homeotic proteins and is part of the Dlk1-DIO3 imprinting control region, involved in epigenetic regulation based on parental origin. Imprinted genes like DLK1 are crucial for placental formation and the development of cell lineages derived from the mesoderm and ectoderm.
May be involved in the development of neuroendocrine cells.
DLK1 is also known as DLK, DLK-1, Delta1, FA1, PREF1, Pref-1, ZOG, pG2.
Associated Diseases
- Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
- Temple syndrome due to paternal 14q32.2 microdeletion
- Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
- Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
- Temple syndrome due to paternal 14q32.2 hypomethylation
- Temple syndrome due to maternal uniparental disomy of chromosome 14
