Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene. Three transcript variants encoding two different isoforms have been found for this gene.
The protein encoded by this gene belongs to the eukaryotic diacylglycerol kinase family. It acts as a modulator that competes with protein kinase C for the second messenger diacylglycerol in intracellular signaling pathways. It also plays an important role in the resynthesis of phosphatidylinositols and phosphorylating diacylglycerol to phosphatidic acid. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified.
The protein encoded by this gene belongs to the eukaryotic diacylglycerol kinase family. It may attenuate protein kinase C activity by regulating diacylglycerol levels in intracellular signaling cascade and signal transduction. Alternative splicing occurs at this locus and multiple transcript variants encoding distinct isoforms have been identified.
This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family. The encoded enzyme contains a conserved catalytic domain and likely functions as an oxidoreductase. Multiple alternatively spliced variants, encoding the same protein, have been identified.
Delta-like protein 3 (DLL3), as a ligand of the Notch pathway, is specifically and highly expressed on the surface of SCLC (small cell lung cancer) cells. It plays an important role in tumor initiation, epithelial-mesenchymal transition, invasion and metastasis of SCLC. Inhibits primary neurogenesis. May be required to divert neurons along a specific differentiation pathway. Plays a role in the formation of somite boundaries during segmentation of the paraxial mesoderm.
DMRT1, also named as DMT1, belongs to the DMRT family. DMRT1 is one of the most conserved transcription factors in a variety of species and is involved in sex determination and germ cell differentiation. DMRT1 prevents sexual switch from male to female, represses pluripotency, and balances mitosis versus meiosis. DMRT1 also maintains spermatogenesis and replenishes mGSCs by collaborating with Plzf and Sal-like protein 4.
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