更多...
收起
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]
[中文简述(自动翻译):]  此基因编码参与头发生长的蛋白质。该蛋白质的功能作为多个核受体,包括甲状腺激素受体,视黄酸受体相关的孤儿受体和维生素D受体的转录辅阻遏,并将其与组蛋白脱乙酰相互作用。这种蛋白质的翻译是由存在的主ORF的上游的调控开放读框(ORF)进行调制。突变这个上游ORF事业玛丽乌纳遗传性少毛症(MUHH),遗传脱发的常染色体显性遗传形式。在这个基因的突变也会造成常染色体隐性遗传的先天性脱发和无毛丘疹性病变,从而导致脱发等疾病。已发现该基因编码不同亚型的两个转录变异体。 [由RefSeq的,2014年10月提供]
HR基因(以及对应的蛋白质)的细胞分布位置:
HR基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
ATRICHIA WITH PAPULAR LESIONS | 0.44 | 0 | 2 | CLINVAR_CTD_human_MGD_ORPHANET |
Alopecia universalis congenita | 0.32 | 3 | 3 | CLINVAR_MGD_UNIPROT |
Alopecia universalis | 0.240271442 | 1 | 0 | BeFree_CTD_human_ORPHANET |
Marie Unna congenital hypotrichosis | 0.240271442 | 1 | 0 | BeFree_CTD_human_ORPHANET |
Marie Unna Hereditary Hypotrichosis 1 | 0.200271442 | 1 | 4 | BeFree_CLINVAR_MGD |
Alopecia | 0.12272435 | 2 | 0 | CTD_human_LHGDN |
alopecia congenita | 0.000271442 | 1 | 0 | BeFree |
Congenital alopecia X-linked | 0.000271442 | 1 | 0 | BeFree |
忘记密码? 点击找回密码.
扫一扫右方二维码,关注微信订阅号,实时查看信息,关注医学生物学动态。