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Hd

Official Full Name
huntingtin
Organism
Mus musculus
GeneID
15194
Background
Enables diazepam binding activity. Involved in several processes, including positive regulation of CAMKK-AMPK signaling cascade; postsynapse to nucleus signaling pathway; and regulation of protein localization to nucleus. Acts upstream of or within several processes, including nervous system development; positive regulation of cilium assembly; and transport along microtubule. Located in several cellular components, including centriole; inclusion body; and perinuclear region of cytoplasm. Is active in glutamatergic synapse. Is expressed in several structures, including central nervous system; olfactory epithelium; peripheral nervous system; retina; and testis. Used to study Huntington's disease. Human ortholog(s) of this gene implicated in Huntington's disease and Parkinson's disease. Orthologous to human HTT (huntingtin). [provided by Alliance of Genome Resources, Feb 2025]
Synonyms
Htt; Hd; Hdh; IT15; C430023I11Rik;

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