DLK1 (Entrez ID: 8788)

Entrez Gene ID 8788
Official Gene Symbol DLK1 (GeneCards)
Full name delta like non-canonical Notch ligand 1
Location 14q32.2
Other ids Vega : OTTHUMG00000171600
MIM : 176290
HGNC : HGNC:2907
Ensembl : ENSG00000185559
Other names DLK, FA1, ZOG, pG2, DLK-1, PREF1, Delta1, Pref-1
Summary This gene encodes a transmembrane protein that contains multiple epidermal growth factor repeats that functions as a regulator of cell growth. The encoded protein is involved in the differentiation of several cell types including adipocytes. This gene is located in a region of chromosome 14 frequently showing unparental disomy, and is imprinted and expressed from the paternal allele. A single nucleotide variant in this gene is associated with child and adolescent obesity and shows polar overdominance, where heterozygotes carrying an active paternal allele express the phenotype, while mutant homozygotes are normal. [provided by RefSeq, Nov 2015]

Variants

Found 1 variant in this database.