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Description

Sal-like protein 2 (UniProt: Q9Y467, also known as Zinc finger protein 795, Zinc finger protein SALL2, Zinc finger protein Spalt-2, Sal-2, hSal2) is encoded by the SALL2 (also known as KIAA0360, SAL2, ZNF795) gene (Gene ID: 6297) in human. SALL2 is a member of the Sal C2H2-type zinc-finger protein family that serves as a transcription factor and plays a role in eye development before, during, and after optic fissure closure. Two isoforms of SALL2 have been described (105 kDa and 21 kDa) that are produced by alternative splicing. SALL2 contains seven C2H2-type zinc-finger regions. Its highest expression is observed in different areas of adult brain and lower levels are detected in heart muscle. It is expressed throughout the retina and lens vesicle as well as the periocular mesenchyme. In fetal brain it is exclusively found in pontine nuclei and is expressed at five weeks of development, the stage at which optic fissure closure begins. Mutations in SALL2 gene are known to cause Coloboma, ocular, autosomal recessive syndrome that results in abnormal morphogenesis of the optic cup and stalk, and incomplete fusion of the fetal intra-ocular fissure during gestation.