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The protein encoded by this gene is an integral peroxisomal membrane protein. An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD/CG9. Expression of this gene product morphologically and biochemically restores the formation of new peroxisomes, suggesting a role in peroxisome organization and biogenesis. Alternative splicing has been observed for this gene and two variants have been described. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  由该基因编码的蛋白质是一个整体的过氧化物酶体膜蛋白。与互补组CGD / CG9的齐薇格综合征患者的观察本地化这个基因的失活无义突变。该基因产物的表达形态学和生化恢复的新过氧化物酶体的形成,这表明在过氧化物酶体组织和生物发生的作用。选择性剪接已经观察到这种基因和两种变体已有描述。 [由RefSeq的,2008年7月提供]
PEX16基因(以及对应的蛋白质)的细胞分布位置:
PEX16基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Zellweger Syndrome | 0.243810118 | 4 | 0 | BeFree_CTD_human_LHGDN_ORPHANET |
PEROXISOME BIOGENESIS DISORDER 8B | 0.24 | 1 | 2 | CLINVAR_UNIPROT |
Peroxisome biogenesis disorders | 0.120542884 | 3 | 0 | BeFree_CTD_human |
Adrenoleukodystrophy, Neonatal | 0.12 | 0 | 0 | ORPHANET |
Infantile Refsum Disease (disorder) | 0.12 | 0 | 0 | ORPHANET |
PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER) | 0.12 | 0 | 1 | CLINVAR |
Degenerative polyarthritis | 0.000271442 | 1 | 0 | BeFree |
African Trypanosomiasis | 0.000271442 | 1 | 0 | BeFree |
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