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.

Oculootoradial syndrome

OORS

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 (DRRS) 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

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

Database links

• entrezGene:57167
• omim:607343
• swissprot:Q9UJQ4

Target type

Proteins

Primary research area

Epigenetics

Other research areas

• Oncology

Molecular weight

112231Da