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This gene encodes a basement membrane protein that may play a role in craniofacial and renal development. Mutations in this gene have been associated with bifid nose with or without anorectal and renal anomalies. Alternatively spliced transcript variants encoding different isoforms have been described. PubMed ID 19940113 describes one such variant that initiates transcription within a distinct, internal exon; the resulting shorter isoform (named Toll-like/interleukin-1 receptor regulator, TILRR) is suggested to be a co-receptor of the interleukin 1 receptor family and may regulate receptor function and Toll-like receptor/interleukin 1 receptor signal transduction, contributing to the control of inflammatory response activation. [provided by RefSeq, Apr 2011]
[中文简述(自动翻译):]  该基因编码基底膜蛋白可能在颅面和肾发展中的作用。在这个基因的突变已与有或没有肛门直肠和肾异常双歧鼻相关联。编码不同同种型的可变剪接转录物变体已有描述。考研ID 19940113描述了这样的一个变种,一个独特的,外显子内部引发内转录;所得短同种型(名为Toll样/白介素-1受体调节剂,TILRR)被建议是白细胞介素1受体家族的一个共同受体,并且可以调节受体功能和Toll样受体/白细胞介素1受体的信号转导,有助于到的炎症反应的激活的控制。 [由RefSeq的,2011年4月提供]
FREM1基因(以及对应的蛋白质)的细胞分布位置:
FREM1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Marles Greenberg Persaud syndrome | 0.560271442 | 3 | 2 | BeFree_CLINVAR_CTD_human_MGD_ORPHANET_UNIPROT |
Bifid Nose With Or Without Anorectal And Renal Anomalies | 0.480271442 | 2 | 2 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
TRIGONOCEPHALY 2 | 0.24 | 1 | 2 | CLINVAR_UNIPROT |
Congenital diaphragmatic hernia | 0.200271442 | 1 | 0 | BeFree_CTD_human_MGD |
Bifid nose | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Congenital absence of kidneys syndrome | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Eye Abnormalities | 0.12 | 1 | 0 | CTD_human |
Unilateral agenesis of kidney | 0.12 | 0 | 0 | ORPHANET |
Cryptophthalmos syndrome | 0.081085767 | 4 | 0 | BeFree_MGD |
CHROMOSOME 9p DELETION SYNDROME | 0.08 | 0 | 0 | MGD |
Blood pressure finding | 0.004734064 | 1 | 2 | GAD |
Systemic arterial pressure | 0.004734064 | 1 | 2 | GAD |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
Diaphragmatic Hernia | 0.000271442 | 1 | 0 | BeFree |
Defect of diaphragm | 0.000271442 | 1 | 0 | BeFree |
Anus Prolapse | 0.000271442 | 1 | 0 | BeFree |
Congenital absence of kidney | 0.000271442 | 1 | 0 | BeFree |
Cakut | 0.000271442 | 1 | 0 | BeFree |
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