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Rabbit Anti-phospho-NeuroD1 (Ser274)/FITC Conjugated antibody
background:
This gene encodes a member of the NeuroD family of basic helix-loop-helix (bHLH) transcription factors. The protein forms heterodimers with other bHLH proteins and activates transcription of genes that contain a specific DNA sequence known as the E-box. It regulates expression of the insulin gene, and mutations in this gene result in type II diabetes mellitus. [provided by RefSeq, Jul 2008]
Function:
Differentiation factor required for dendrite morphogenesis and maintenance in the cerebellar cortex. Transcriptional activator. Binds to the insulin gene E-box.
Subcellular Location:
Cytoplasm. Nucleus.
Post-translational modifications:
Phosphorylated. In islet cells, phosphorylated on Ser-274 upon glucose stimulation; which may be required for nuclear localization. In activated neurons, phosphorylated on Ser-335; which promotes dendritic growth.
DISEASE:
Defects in NEUROD1 are the cause of maturity-onset diabetes of the young type 6 (MODY6) [MIM:606394]. MODY is a form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.
Similarity:
Contains 1 basic helix-loop-helix (bHLH) domain.
Database links:
Entrez Gene: 4760 Human
Entrez Gene: 3612 Mouse
Entrez Gene: 29458 Rat
Omim: 601724 Human
SwissProt: Q13562 Human
SwissProt: Q60867 Mouse
SwissProt: Q64289 Rat
Unigene: 574626 Human
Unigene: 709709 Human
Unigene: 4636 Mouse
Unigene: 44289 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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