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Description

Basic helix-loop-helix (bHLH) transcription factors have been implicated in cell lineage determination and differentiation. The protein encoded by this gene is a bHLH transcription factor and shares similarity with another bHLH transcription factor, Dermo1. The strongest expression of this mRNA is in placental tissue; in adults, mesodermally derived tissues express this mRNA preferentially. Mutations in this gene have been found in patients with Saethre-Chotzen syndrome.

Bioinformatics

Entrez	7291 Human
Uniprot	NP_000465 Human
Product By Gene ID	7291
Alternate Names	acrocephalosyndactyly 3 ACS3 B-HLH DNA binding protein BHLHA38 bHLHa38BPES3 BPES3 Class A basic helix-loop-helix protein 38 CRS1 H-twist H-twistblepharophimosis, epicanthus inversus and ptosis 3 SCSBPES2 twist homolog 1 (Drosophila) TWIST homolog of drosophila TWIST Twist1 Twist-1 twist-related protein 1

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Cancer

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