Aliases for DLK1 Gene
External Ids for DLK1 Gene
Previous GeneCards Identifiers for DLK1 Gene
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]
GeneCards Summary for DLK1 Gene
DLK1 (Delta-Like 1 Homolog (Drosophila)) is a Protein Coding gene. Diseases associated with DLK1 include Paternal 14Q32.2 Microdeletion Syndrome and Maternal 14Q32.2 Microdeletion Syndrome. Among its related pathways are NOTCH2 Activation and Transmission of Signal to the Nucleus and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is NOTCH2NL.
UniProtKB/Swiss-Prot for DLK1 Gene
May have a role in neuroendocrine differentiation.