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This gene encodes a member of the BTB-kelch superfamily. Initially described as a putative transcriptional regulator based on weak homology to members of the basic leucine zipper-like family, the encoded protein subsequently has been shown to localize exclusively to the Golgi network where it may help stabilize the Gogli complex. Deletion of this gene may be associated with DiGeorge syndrome. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  该基因编码的BTB-KELCH超家族的成员。最初被描述为基于弱同源性的碱性亮氨酸拉链样家族成员的推定的转录调节,所编码的蛋白质随后已被证明完全定位于高尔基体网络在那里它可帮助稳定Gogli复杂。该基因的缺失可以与迪乔治综合征关联。 [由RefSeq的,2008年7月提供]
LZTR1基因(以及对应的蛋白质)的细胞分布位置:
LZTR1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Schwannomatosis | 0.240542884 | 2 | 0 | BeFree_CTD_human_ORPHANET |
SCHWANNOMATOSIS 2 | 0.24 | 1 | 6 | CLINVAR_UNIPROT |
Autistic Disorder | 0.12 | 1 | 0 | CTD_human |
Glioblastoma | 0.12 | 1 | 0 | CTD_human |
Noonan Syndrome | 0.12 | 0 | 0 | ORPHANET |
gliosarcoma | 0.12 | 0 | 0 | ORPHANET |
Giant Cell Glioblastoma | 0.12 | 0 | 0 | ORPHANET |
Neurofibromatosis 3 | 0.12 | 0 | 0 | ORPHANET |
Cerebrovascular accident | 0.002367032 | 1 | 0 | GAD |
Subarachnoid Hemorrhage | 0.002367032 | 1 | 0 | GAD |
Intracranial Hemorrhages | 0.002367032 | 1 | 0 | GAD |
Cerebral Hemorrhage | 0.002367032 | 1 | 0 | GAD |
Neurilemmoma | 0.000271442 | 1 | 0 | BeFree |
Acoustic Neuroma | 0.000271442 | 1 | 0 | BeFree |
Autosomal dominant hereditary disorder | 0.000271442 | 1 | 0 | BeFree |
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