SALL4

Function

Transcription factor with a key role in the maintenance and self-renewal of embryonic and hematopoietic stem cells.

Involvement in disease

Duane-radial ray syndrome

DRRS

Disorder characterized by the association of forearm malformations with Duane retraction syndrome.

None

The disease is caused by variants affecting the gene represented in this entry.

IVIC syndrome

IVIC

An autosomal dominant condition characterized by upper limbs anomalies (radial ray defects, carpal bones fusion), extraocular motor disturbances, congenital bilateral non-progressive mixed hearing loss. Other less consistent malformations include heart involvement, mild thrombocytopenia and leukocytosis (before age 50), shoulder girdle hypoplasia, imperforate anus, kidney malrotation or rectovaginal fistula. The IVIC syndrome is an allelic disorder of Duane-radial ray syndrome with a similar phenotype.

None

The disease is caused by variants affecting the gene represented in this entry.

Post-translational modifications

Isoform SALL4B exists primarily as a ubiquitinated form.

Sumoylation with both SUMO1 and SUMO2 regulates the stability, subcellular localization, transcriptional activity, and may reduce interaction with POU5F1/OCT4.

Sequence Similarities

Belongs to the sal C2H2-type zinc-finger protein family.

Tissue Specificity

Expressed in testis. Constitutively expressed in acute myeloid leukemia (AML).

Cellular localization

• Cytoplasm
• Nucleus

Alternative names

ZNF797, SALL4, Sal-like protein 4, Zinc finger protein 797, Zinc finger protein SALL4

Database links

swissprot:Q9UJQ4 entrezGene:57167 omim:607343

Other research areas

• Oncology