Aliases for DLK1 Gene
External Ids for DLK1 Gene
Previous GeneCards Identifiers for DLK1 Gene
This gene encodes a transmembrane protein containing six epidermal growth factor repeats. The protein is involved in the differentiation of several cell types, including adipocytes; it is also thought to be a tumor suppressor. It is one of several imprinted genes located in a region of on chr 14q32. Certain mutations in this imprinted region can cause phenotypes similar to maternal and paternal uniparental disomy of chromosome 14 (UPD14). This gene is expressed from the paternal allele. A polymorphism within this gene has been associated with child and adolescent obesity. The mode of inheritance for this polymorphism is polar overdominance; this non-Mendelian inheritance pattern was first described in sheep with the callipyge phenotype, which is characterized by muscle hypertrophy and decreased fat mass. [provided by RefSeq, Mar 2010]
GeneCards Summary for DLK1 Gene
DLK1 (Delta-Like 1 Homolog (Drosophila)) is a Protein Coding gene. Diseases associated with DLK1 include temple syndrome and uniparental disomy, paternal, chromosome 14. Among its related pathways are Signaling by GPCR and Disease. An important paralog of this gene is NOTCH2.
UniProtKB/Swiss-Prot for DLK1 Gene
May have a role in neuroendocrine differentiation