The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
1/50 - 1/100.
Probable transcription factor.
Expressed in testis.
Involvement in 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. Defects in SALL4 are the cause of oculootoradial syndrome (OORS) [MIM:147750]. Oculootoradial 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.
Belongs to the sal C2H2-type zinc-finger protein family. Contains 7 C2H2-type zinc fingers.
Valli H et al. Fluorescence- and magnetic-activated cell sorting strategies to isolate and enrich human spermatogonial stem cells. Fertil Steril102:566-580.e7 (2014).
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