Sall4 è un gene codificato dal simbolo SALL4. È noto anche come: Sal-like protein 4; Zinc finger protein 797; Zinc finger protein ZNF797. Sall4 ha una massa di 112.23kDa, una lunghezza di amminoacidi di 1053, ed è implicato nella malattia: Duane-radial ray syndrome; Oculootoradial syndrome.
Offriamo 11 anticorpi contro Sall4, allevati nel Coniglio, Topo e Capra, che sono adatti per WB, IHC, ELISA e ICC/IF con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo UniProt
Transcription factor with a key role in the maintenance and self-renewal of embryonic and hematopoietic stem cells.
Sommario di Entrez
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.
Specificità del tessuto
Expressed in testis. Constitutively expressed in acute myeloid leukemia (AML).
Coinvolgimento nella malattia
Duane-radial ray syndrome: Disorder characterized by the association of forearm malformations with Duane retraction syndrome.
Oculootoradial syndrome: 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.
Somiglianze di sequenza
Belongs to the sal C2H2-type zinc-finger protein family.
Modifica post-translazionale
Isoform SALL4B exists primarily as a ubiquitinated form.
Posizione cellulare
Cytoplasm. Nucleus.
