NHLH1 Human
Description
NHLH1 is fused to a 23 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.
Product Specs
Product Science Overview
NHLH1 was first identified by Begley et al. in 1992 . The gene was discovered based on its hybridization to SCL (TAL1), a gene involved in T-cell acute lymphoblastic leukemia. The novel gene was initially referred to as NSCL (Nervous System-specific Helix-Loop-Helix) due to its expression in the developing nervous system . The murine homolog of NHLH1, known as Nscl, was also identified around the same time .
The NHLH1 gene is located on chromosome 1q23.2 in humans . It encodes a protein of approximately 14.8 kDa, consisting of 133 amino acids . The protein shares significant sequence identity with other members of the HLH family, particularly in the HLH domain, which is essential for its function as a transcription factor .
NHLH1 is expressed predominantly in the developing nervous system, where it is believed to play a role in the differentiation and development of neural cells . The gene is coexpressed with a highly related protein, NHLH2, in human neuroblastoma cell lines .
NHLH1 functions as a DNA-binding protein and is involved in the regulation of gene expression by forming dimers with other HLH proteins . It has been shown to interact with LMO2 and LMO4, two other proteins involved in transcriptional regulation . LMO4, in particular, can modulate the transcriptional activity of NHLH1 and influence neurite extension in rat hippocampal precursor cells .
The NHLH1 gene has been mapped to chromosome 1q23.2 in humans . In mice, the gene is located on chromosome 1 and is closely linked to the serum amyloid P locus . NHLH1 null mice, which lack the functional gene, have been developed as a model to study its role in development. These mice exhibit a predisposition to premature, adult-onset, unexpected death, highlighting the gene’s importance in normal physiological processes .
Mutations or dysregulation of NHLH1 have been implicated in various developmental disorders and diseases. The gene’s involvement in the development of the nervous system suggests that it may play a role in neurodevelopmental disorders . Additionally, its interaction with other transcription factors involved in tumorigenesis indicates a potential role in cancer biology .
