Acd - adrenocortical dysplasia 基因

Acd - adrenocortical dysplasia 基因

功能概要

Enables telomeric DNA binding activity. Involved in protection from non-homologous end joining at telomere. Acts upstream of or within several processes, including embryonic limb morphogenesis; segmentation; and skeletal system development. Located in chromosome, telomeric region. Part of nuclear telomere cap complex. Is expressed in several structures, including adrenal gland; genitourinary system; liver; neural tube; and spleen. Human ortholog(s) of this gene implicated in autosomal dominant dyskeratosis congenita 6. Orthologous to human ACD (ACD shelterin complex subunit and Telomerase recruitment factor). [provided by Alliance of Genome Resources, Apr 2022]

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