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This gene encodes a protein that consists almost entirely of leucine-rich repeats, a domain implicated in protein-protein interactions. The protein may function as a scaffold linking RAS to downstream signal transducers in the RAS/ERK MAP kinase signaling cascade. Mutations in this gene have been associated with Noonan-like syndrome with loose anagen hair. [provided by RefSeq, May 2010]
[中文简述(自动翻译):]  这个基因编码,几乎完全由富含亮氨酸的重复序列的蛋白,在蛋白质 - 蛋白质相互作用涉及的域。蛋白质可以作为支架连接RAS到在RAS / ERK MAP激酶信号级联的下游信号转导的作用。在这种基因突变与努南样综合征松散生长期头发相关联。 [由RefSeq的,2010年5月提供]
SHOC2基因(以及对应的蛋白质)的细胞分布位置:
SHOC2基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR | 0.48 | 2 | 2 | CLINVAR_CTD_human_ORPHANET_UNIPROT |
Noonan Syndrome | 0.123257302 | 13 | 0 | BeFree_CTD_human |
Hair Diseases | 0.12 | 1 | 0 | CTD_human |
Noonan-Like Syndrome With Loose Anagen Hair | 0.002171535 | 8 | 1 | BeFree |
Cardio-facio-cutaneous syndrome | 0.000814326 | 3 | 0 | BeFree |
NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME (disorder) | 0.000542884 | 2 | 0 | BeFree |
Autoimmune Diseases | 0.000271442 | 1 | 0 | BeFree |
leukemia | 0.000271442 | 1 | 0 | BeFree |
Lupus Erythematosus, Systemic | 0.000271442 | 1 | 0 | BeFree |
Polyarthritis | 0.000271442 | 1 | 0 | BeFree |
Hematologic Neoplasms | 0.000271442 | 1 | 0 | BeFree |
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