HR - HR lysine demethylase and nuclear receptor corepressor Gene

中文名称：HR 赖氨酸脱甲基酶和核受体辅阻遏物

种属: Homo sapiens

同用名: AU; MUHH; ALUNC; HYPT4; MUHH1; HSA277165

关于 HR

功能概要

该基因编码一种与毛发生长有关的蛋白质。这种蛋白质作为多种核受体的转录辅助抑制因子发挥作用，包括甲状腺激素受体、视黄酸受体相关孤儿受体和维生素 D 受体，并与组蛋白脱乙酰酶相互作用。该蛋白质的翻译受存在于主要 ORF 上游的调节性开放阅读框 (ORF) 调节。这个上游 ORF 的突变导致 Marie Unna 遗传性少毛症 (MUHH) ，这是一种常染色体显性遗传性脱发。该基因的突变还会导致常染色体隐性遗传性先天性脱发和伴有丘疹性病变的无毛症，以及其他导致脱发的疾病。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供，2014 年 10 月]

This gene encodes a protein that is involved in hair growth. This protein functions as a transcriptional corepressor of multiple nuclear receptors, including Thyroid Hormone Receptor, the retinoic acid receptor-related orphan receptors and the vitamin D receptors, and it interacts with histone deacetylases. The translation of this protein is modulated by a regulatory open reading frame (ORF) that exists upstream of the primary ORF. Mutations in this upstream ORF cause Marie Unna hereditary hypotrichosis (MUHH), an autosomal dominant form of genetic hair loss. Mutations in this gene also cause autosomal recessive congenital alopecia and atrichia with papular lesions, Other Diseases resulting in hair loss. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014]