SALL4 Human Recombinant Protein

This gene encodes a zinc finger transcription factor thought to play a role in the development of abducens motor neurons. Defects in this gene are a cause of Duane-radial ray syndrome (DRRS). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

SALL4: a transcription factor and oncofetal protein expressed embryonically and in the testis. Plays a key role in maintenance and self-renewal of embryonic stem cells. Interacts with NANOG and OCT4. Ectopically expressed in acute B-cell lymphoblastic leukemia (B-ALL) and myeloid leukemia (AML), playing a role in the survival of B-ALL cells and in myeloid leukemogenesis. Aberrantly expressed in multiple carcinomas including human gastric carcinoma and hepatocellular carcinoma. Maintains the stem cell qualities of EpCAM-positive hepatocellular carcinoma cells. Expressed in primary human endometrial cancer samples but not normal or hyperplastic endometrial cells. Its expression in carcinomas positively correlates with metastatic potential and poor patient survival. Specifically binds the c-Myc promoter region in endometrial cancer cells, apparently increasing c-Myc expression. Belongs to the sal C2H2-type zinc-finger protein family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: C2H2-type zinc finger protein; Cancer Testis Antigen (CTA); DNA-binding

Chromosomal Location of Human Ortholog: 20q13.2

Cellular Component: intracellular membrane-bound organelle; nucleoplasm; nucleus

Molecular Function: protein binding; sequence-specific DNA binding; transcription factor activity

Biological Process: multicellular organismal development; regulation of transcription, DNA-dependent; signal transduction; somatic stem cell maintenance; transcription from RNA polymerase II promoter

Disease: Duane-radial Ray Syndrome; Ivic Syndrome