Database of Single Nucleotide Polymorphisms (dbSNP)įull Name huntingtin provided by HGNC Primary source HGNC:HGNC:4851 See related Ensembl:ENSG00000197386 MIM:613004 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota Metazoa Chordata Craniata Vertebrata Euteleostomi Mammalia Eutheria Euarchontoglires Primates Haplorrhini Catarrhini Hominidae Homo Also known as HD IT15 LOMARS Summary Huntingtin is a disease gene linked to Huntington's disease, a neurodegenerative disorder characterized by loss of striatal neurons.