Synthesized peptide derived from human protein . at AA range: 891-940

SALL4 Polyclonal Antibody detects endogenous levels of protein.

SALL4 ZNF797

Sal-like protein 4 (Zinc finger protein 797) (Zinc finger protein SALL4)

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] ,

Disease:Defects in SALL4 are the cause of Duane-radial ray syndrome (DRRS) [MIM:607323]; also known as Okihiro syndrome. DRRS is a disorder characterized by the association of forearm malformations with Duane retraction syndrome. ,Disease:Defects in SALL4 are the cause of IVIC syndrome [MIM:147750]. IVIC syndrome is 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 (DRRS) with a similar phenotype. ,Function:Probable transcription factor. ,similarity:Belongs to the sal C2H2-type zinc-finger protein family. ,similarity:Contains 7 C2H2-type zinc fingers. ,subunit:Interacts with NANOG. ,tissue specificity:Expressed in testis. ,

Cytoplasm. Nucleus.