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The protein encoded by this gene belongs to the SAC domain-containing protein gene family. The SAC domain, approximately 400 amino acids in length and consisting of seven conserved motifs, has been shown to possess phosphoinositide phosphatase activity. The yeast homolog, Sac1p, is involved in the regulation of various phosphoinositides, and affects diverse cellular functions such as actin cytoskeleton organization, Golgi function, and maintenance of vacuole morphology. Membrane-bound phosphoinositides function as signaling molecules and play a key role in vesicle trafficking in eukaryotic cells. Mutations in this gene have been associated with Charcot-Marie-Tooth disease, type 4J. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  由该基因编码的蛋白质属于SAC结构域的蛋白基因家族。在SAC结构域,在长度和组成的7个保守的基序大约400个氨基酸,已经显示出具有磷酸肌醇磷酸酶活性。酵母同源物,Sac1p,参与多种磷酸肌醇的调节,并影响多种细胞功能,如肌动蛋白细胞骨架组织,高尔基功能,和液泡形态维护。膜结合磷酸肌醇函数作为信号分子,并在真核细胞中发挥囊泡运输的关键作用。该基因突变与腓骨肌萎缩症,类型4J有关。 [由RefSeq的,2008年7月提供]
FIG4基因(以及对应的蛋白质)的细胞分布位置:
FIG4基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J | 0.561628651 | 7 | 6 | BeFree_CLINVAR_CTD_human_MGD_ORPHANET_UNIPROT |
Yunis Varon syndrome | 0.441085767 | 4 | 4 | BeFree_CLINVAR_MGD_ORPHANET_UNIPROT |
AMYOTROPHIC LATERAL SCLEROSIS 11 | 0.36 | 1 | 2 | CLINVAR_CTD_human_UNIPROT |
POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL | 0.24 | 1 | 0 | ORPHANET_UNIPROT |
Charcot-Marie-Tooth Disease | 0.121900093 | 7 | 0 | BeFree_CTD_human |
Peripheral Neuropathy | 0.120814326 | 4 | 0 | BeFree_CTD_human |
Amyotrophic Lateral Sclerosis | 0.120271442 | 1 | 0 | BeFree_ORPHANET |
Primary Lateral Sclerosis, Adult, 1 | 0.12 | 0 | 0 | ORPHANET |
Polymicrogyria, Bilateral Occipital | 0.12 | 0 | 1 | CLINVAR |
Neuropathy | 0.001628651 | 6 | 0 | BeFree |
Epilepsy | 0.000542884 | 2 | 0 | BeFree |
Tremor | 0.000542884 | 2 | 0 | BeFree |
Lateral Sclerosis | 0.000542884 | 2 | 0 | BeFree |
Polymicrogyria | 0.000542884 | 2 | 0 | BeFree |
Congenital Abnormality | 0.000271442 | 1 | 0 | BeFree |
Demyelinating Diseases | 0.000271442 | 1 | 0 | BeFree |
Glioma | 0.000271442 | 1 | 0 | BeFree |
Hereditary Motor and Sensory Neuropathies | 0.000271442 | 1 | 0 | BeFree |
Papillon-Lefevre Disease | 0.000271442 | 1 | 0 | BeFree |
Seizures | 0.000271442 | 1 | 0 | BeFree |
Lysosomal Storage Diseases | 0.000271442 | 1 | 0 | BeFree |
Motor Neuron Disease | 0.000271442 | 1 | 0 | BeFree |
Peripheral demyelinating neuropathy | 0.000271442 | 1 | 0 | BeFree |
Segmental demyelination | 0.000271442 | 1 | 0 | BeFree |
Malignant Glioma | 0.000271442 | 1 | 0 | BeFree |
Inherited neuropathies | 0.000271442 | 1 | 0 | BeFree |
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