EGR4

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Description

The EGR4 (early growth response 4) is a protein-coding gene located on chromosome 2.

EGR-4, also known as AT133, is a protein encoded by the EGR4 gene in humans. It belongs to the early growth response (EGF) family of zinc finger transcription factors, meaning it regulates gene expression by binding to DNA.

EGR-4 acts as a transcriptional regulator, specifically recognizing and binding to the DNA sequence 5'-GCGGGGGCG-3' (GSG). This binding triggers the activation of target gene transcription, leading to the production of proteins crucial for cell growth (mitogenesis) and development (differentiation).

EGR4 is also known as AT133, NGFI-C, NGFIC, PAT133.

Associated Diseases

• male infertility with teratozoospermia due to single gene mutation
• breast cancer
• partial chromosome Y deletion
• spinocerebellar ataxia type 32
• isochromosomy Yp
• congenital bilateral absence of vas deferens
• spermatogenic failure 25
• spermatogenic failures 50
• spermatogenic failure 63
• isochromosomy Yq
• partial androgen insensitivity syndrome
• spermatogenic failure, X-linked, 2
• cancer
• spermatogenic failure 65
• spermatogenic failure 44
• isolated congenital hypogonadotropic hypogonadism