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Mammalian lens crystallins are divided into alpha, beta, and gamma families. Alpha crystallins are composed of two gene products: alpha-A and alpha-B, for acidic and basic, respectively. Alpha crystallins can be induced by heat shock and are members of the small heat shock protein (HSP20) family. They act as molecular chaperones although they do not renature proteins and release them in the fashion of a true chaperone; instead they hold them in large soluble aggregates. Post-translational modifications decrease the ability to chaperone. These heterogeneous aggregates consist of 30-40 subunits; the alpha-A and alpha-B subunits have a 3:1 ratio, respectively. Two additional functions of alpha crystallins are an autokinase activity and participation in the intracellular architecture. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Alpha-A and alpha-B gene products are differentially expressed; alpha-A is preferentially restricted to the lens and alpha-B is expressed widely in many tissues and organs. Defects in this gene cause autosomal dominant congenital cataract (ADCC). [provided by RefSeq, Jan 2014]
[中文简述(自动翻译):]  哺乳动物镜头晶状体分为α,β和γ家庭。阿尔法晶状体组成的两种基因产物:字母A和字母B,分别用于酸性和碱性。阿尔法晶状体可以通过热休克诱导,并且是小的热休克蛋白(HSP20)家族的成员。他们作为分子伴侣,虽然他们不复性蛋白质和在一个真正的伴侣的方式释放他们。相反,他们拿着他们在大型可溶性聚集。翻译后修饰降低到伴侣的能力。这些异构聚集包括30-40亚基; α-A和阿尔法-B亚基具有一个3:1的比例,分别为。阿尔法晶状体的另外两个功能都在细胞内结构的autokinase活动和参与。所编码的蛋白质已被鉴定为是根据它来执行机制上不同功能能力的兼职蛋白。阿尔法-A和α-B基因产物差异表达;阿尔法-A优先限制在透镜和α-B在许多组织和器官中广泛表达。缺陷这个基因导致常染色体显性遗传先天性白内障(ADCC)。 [由RefSeq的,2014年1月提供]
CRYAA基因(以及对应的蛋白质)的细胞分布位置:
CRYAA基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| CATARACT, AUTOSOMAL DOMINANT | 0.32 | 5 | 6 | CLINVAR_MGD_UNIPROT |
| Cataract | 0.217878945 | 23 | 4 | BeFree_CTD_human_GAD_LHGDN_RGD |
| Nuclear cataract | 0.120814326 | 3 | 2 | BeFree_ORPHANET |
| Nuclear non-senile cataract | 0.120814326 | 3 | 2 | BeFree_ORPHANET |
| Age-related cataract | 0.120271442 | 2 | 1 | BeFree_GWASCAT |
| Autoimmune Diseases | 0.12 | 1 | 0 | CTD_human |
| Uveitis | 0.12 | 2 | 0 | CTD_human |
| Congenital total cataract | 0.12 | 0 | 0 | ORPHANET |
| CATARACT, ANTERIOR POLAR | 0.12 | 0 | 0 | ORPHANET |
| Cataract microcornea syndrome | 0.12 | 0 | 0 | ORPHANET |
| Galactosemias | 0.08 | 1 | 0 | RGD |
| Ocular Hypertension | 0.08 | 1 | 0 | RGD |
| Congenital ocular coloboma (disorder) | 0.00272435 | 1 | 0 | LHGDN |
| Corneal Opacity | 0.00272435 | 1 | 0 | LHGDN |
| Bilateral cataracts (disorder) | 0.001900093 | 7 | 3 | BeFree |
| Congenital cataract | 0.001628651 | 6 | 2 | BeFree |
| Microcornea | 0.000542884 | 2 | 1 | BeFree |
| AIDS related complex | 0.000271442 | 1 | 0 | BeFree |
| Coloboma of iris | 0.000271442 | 1 | 1 | BeFree |
| Congenital coloboma of iris | 0.000271442 | 1 | 1 | BeFree |
| Lens Opacities | 0.000271442 | 1 | 0 | BeFree |
| Cataract, Age-Related Nuclear | 0.000271442 | 1 | 0 | BeFree |
| CATARACT, MARNER TYPE | 0.000271442 | 1 | 0 | BeFree |
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