组成
PBS, 50% glycerol, 0.05% Proclin 300, 0.05%BSA
背景
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],
功能
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.,
