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The protein encoded by this gene is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. The encoded enzyme removes thioester-linked fatty acyl groups such as palmitate from cysteine residues. Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 (CLN1, or INCL) and neuronal ceroid lipofuscinosis 4 (CLN4). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2008]
[中文简述(自动翻译):]  由该基因编码的蛋白质是溶酶体降解期间参与脂质修饰的蛋白质的分解代谢的小糖蛋白。所编码的酶除去硫酯连接的脂肪酰基如半胱氨酸残基,棕榈酸。在这个基因的缺陷是小儿神经元蜡样脂褐质1(CLN1,或INCL)和神经元蜡样脂褐质4(CLN4)的一个原因。两个转录变异体的编码不同亚型也发现了这种基因。[由RefSeq的,2008年12月提供]
PPT1基因(以及对应的蛋白质)的细胞分布位置:
PPT1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
CEROID LIPOFUSCINOSIS, NEURONAL, 1 | 0.56 | 4 | 58 | CLINVAR_CTD_human_MGD_ORPHANET_UNIPROT |
Ceroid lipofuscinosis, neuronal 1, infantile | 0.124614512 | 19 | 0 | BeFree_CTD_human |
Juvenile Neuronal Ceroid Lipofuscinosis | 0.081357209 | 5 | 0 | BeFree_MGD |
Neuronal Ceroid-Lipofuscinoses | 0.019759175 | 47 | 1 | BeFree_GAD_LHGDN |
Schizophrenia | 0.005091382 | 2 | 0 | GAD_LHGDN |
Neoplasm Metastasis | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Colorectal Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Neurodegenerative Disorders | 0.002714419 | 10 | 0 | BeFree |
Infantile neuronal ceroid lipofuscinosis | 0.002442977 | 9 | 0 | BeFree |
Malignant neoplasm of occipital lobe | 0.002367032 | 1 | 1 | GAD |
Malignant neoplasm of prostate | 0.001357209 | 5 | 0 | BeFree |
Prostate carcinoma | 0.001357209 | 5 | 0 | BeFree |
Lysosomal Storage Diseases | 0.001085767 | 4 | 0 | BeFree |
Late-Infantile Neuronal Ceroid Lipfuscinosis | 0.000814326 | 3 | 0 | BeFree |
Neuroblastoma | 0.000814326 | 3 | 0 | BeFree |
Central neuroblastoma | 0.000814326 | 3 | 0 | BeFree |
Liver neoplasms | 0.000542884 | 2 | 0 | BeFree |
Juvenile disease | 0.000542884 | 2 | 0 | BeFree |
Liver carcinoma | 0.000542884 | 2 | 0 | BeFree |
Unspecified visual loss | 0.000542884 | 2 | 0 | BeFree |
Alzheimer's Disease | 0.000271442 | 1 | 0 | BeFree |
Bipolar Disorder | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of breast | 0.000271442 | 1 | 0 | BeFree |
Adenocarcinoma of prostate | 0.000271442 | 1 | 0 | BeFree |
Muscular fasciculation | 0.000271442 | 1 | 0 | BeFree |
Glioblastoma | 0.000271442 | 1 | 0 | BeFree |
Huntington Disease | 0.000271442 | 1 | 0 | BeFree |
Immunologic Deficiency Syndromes | 0.000271442 | 1 | 0 | BeFree |
Pain in lower limb | 0.000271442 | 1 | 0 | BeFree |
Ovarian Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Pain | 0.000271442 | 1 | 0 | BeFree |
Retinal Degeneration | 0.000271442 | 1 | 0 | BeFree |
Thyroiditis | 0.000271442 | 1 | 0 | BeFree |
Vomiting | 0.000271442 | 1 | 0 | BeFree |
Encephalopathies | 0.000271442 | 1 | 0 | BeFree |
Pancreatitis, Chronic | 0.000271442 | 1 | 0 | BeFree |
Left Ventricular Hypertrophy | 0.000271442 | 1 | 0 | BeFree |
Teratocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Lipofuscinosis | 0.000271442 | 1 | 0 | BeFree |
Disseminated neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
Carcinogenesis | 0.000271442 | 1 | 0 | BeFree |
Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Stage 4S neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of ovary | 0.000271442 | 1 | 0 | BeFree |
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