Transcription factor with a key role in the maintenance and self-renewal of embryonic and hematopoietic stem cells.
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.
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.
Belongs to the sal C2H2-type zinc-finger protein family.
Expressed in testis. Constitutively expressed in acute myeloid leukemia (AML).
ZNF797, SALL4, Sal-like protein 4, Zinc finger protein 797, Zinc finger protein SALL4
Proteins
Epigenetics
112231Da
We found 12 products in 2 categories
ab57577
ab29112
ab153444