Gene: DLK1

Alternate names for this Gene: DLK|DLK-1|Delta1|FA1|PREF1|Pref-1|ZOG|pG2

Gene 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.

Gene is located in Chromosome: 14

Location in Chromosome : 14q32.2

Description of this Gene: delta like non-canonical Notch ligand 1

Type of Gene: protein-coding

rs1555406 in DLK1 gene and Age at menarche PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs117182230 in DLK1 gene and Body Height PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.