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basic helix-loop-helix family member e40 ELISA Kits

BHLHA15 exhibits DNA binding activity and is predicted to be involved in several processes, including cell-cell signaling; intracellular distribution of mitochondria; and mitochondrial calcium ion transmembrane transport. Orthologous to human BHLHA15 (basic helix-loop-helix family member a15); PARTICIPATES IN maturity-onset diabetes of the young pathway; INTERACTS WITH 2,4,6-trinitrotoluene; 6-propyl-2-thiouracil; acrylamide. The diseases associated with BHLHA15 include Pancreas Adenocarcinoma. It plays a role in controlling the transcriptional activity of MYOD1, ensuring that expanding myoblast populations remain undifferentiated. Repression may occur through muscle-specific E-box occupancy by homodimers. It could also negatively regulate bHLH-mediated transcription through an N-terminal repressor domain. Also, serves as a key regulator of acinar cell function, stability, and identity. It is required for normal organelle localization in exocrine cells and for mitochondrial calcium ion transport. It may function as a unique regulator of gene expression in several different embryonic and postnatal cell lineages.

Basic Helix-loop-helix family member A9 (BHLHA9) gene is a member of the basic helix-loop-helix family. The encoded protein is a transcription factor involved in limb development. Mutations in this gene have been associated with mesoaxial synostotic syndactyly Malik-Percin type (MSSD) which is a rare autosomal-recessive nonsyndromic digit anomaly. A study concluded that by dimerizing with other BHLH protein monomers, BHLHA9 could fine tune the expression of regulatory factors governing determination of central limb mesenchyme cells, a function made impossible by altering critical amino acids in the DNA binding domain. The findings identify BHLHA9 as an essential player in the regulatory network governing limb morphogenesis in humans.

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