GSC2 - goosecoid homeobox 2 Gene

中文名称：鹅卵石同源盒 2

种属: Homo sapiens

同用名: GSCL

关于 GSC2

功能概要

Goosecoidlike (GSCL) 是一种包含同源结构域的基因，位于 22q11 上 VCFS/DGS 的关键区域。 Velocardiofacial 综合征 (VCFS) 是一种发育障碍，其特征是圆锥干心脏缺陷、颅面畸形和学习障碍。 VCFS 在表型上与 DiGeorge 综合征 (DGS) 相关，并且这两种综合征都与半合子 22q11 缺失相关。由于 VCFS/DGS 中受影响的许多组织和结构源自发育中胚胎的咽弓，因此认为参与胚胎发育的基因的单倍体不足可能是其病因学原因。该基因在有限数量的成人组织以及早期人类发育中表达。[RefSeq 提供，2008 年 7 月]

Goosecoidlike (GSCL), a homeodomain-containing gene, resides in the critical region for VCFS/DGS on 22q11. Velocardiofacial syndrome (VCFS) is a developmental disorder characterized by conotruncal heart defects, craniofacial anomalies, and learning disabilities. VCFS is phenotypically related to DiGeorge syndrome (DGS) and both syndromes are associated with hemizygous 22q11 deletions. Because many of the tissues and structures affected in VCFS/DGS derive from the pharyngeal arches of the developing embryo, it is believed that haploinsufficiency of a gene involved in embryonic development may be responsible for its etiology. The gene is expressed in a limited number of adult tissues, as well as in early human development. [provided by RefSeq, Jul 2008]