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ALX1

The specific function of this gene has yet to be determined in humans; however, in rodents, it is necessary for survival of the forebrain mesenchyme and may also be involved in development of the cervix. Mutations in the mouse gene lead to neural tube defects such as acrania and meroanencephaly.
Protein class

Disease related genes, Human disease related genes, Transcription factors

Predicted location

Intracellular

Single cell type specificity

Cell type enriched (Melanocytes)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Cell line enhanced (HAP1, HEK93, HUVEC TERT2, SK-MEL-30, THP-1, WM-115)

Interaction

Binds DNA as a homodimer; required for transcriptional activation (PubMed:9753625). Interacts (via homeobox domain) with EP300; acetylates ALX1 and stimulates its transcriptional activity.

Molecular function

Activator, Developmental protein, DNA-binding, Repressor

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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