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DLK1

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.
Predicted location

Intracellular, Membrane (different isoforms)

Single cell type specificity

Cell type enhanced (Skeletal myocytes, Leydig cells, Fibroblasts, Exocrine glandular cells)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Group enriched (AF22, Hep G2, SH-SY5Y)

Interaction

Monomer. Interacts with SH3RF2 (By similarity).

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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