【佳學(xué)基因檢測】多學(xué)科病例分析中關(guān)于ADD3的知識(shí)要點(diǎn)

基因檢測的序列名稱：

ADD3

人體基因序列變化與疾病表征數(shù)據(jù)庫中的基因代碼：

120

人體基因序列數(shù)據(jù)庫中國際交流名稱全稱

adducin 3

中國數(shù)據(jù)庫中基因全稱：

Adducin 3

基因檢測報(bào)告英文版基因簡介

Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma. The three subunits are encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin network in erythrocytes and at sites of cell-cell contact in epithelial tissues. While adducins alpha and gamma are ubiquitously expressed, the expression of adducin beta is restricted to brain and hematopoietic tissues. Adducin, originally purified from human erythrocytes, was found to be a heterodimer of adducins alpha and beta. Polymorphisms resulting in amino acid substitutions in these two subunits have been associated with the regulation of blood pressure in an animal model of hypertension. Heterodimers consisting of alpha and gamma subunits have also been described. Structurally, each subunit is comprised of two distinct domains. The amino-terminal region is protease resistant and globular in shape, while the carboxy-terminal region is protease sensitive. The latter contains multiple phosphorylation sites for protein kinase C, the binding site for calmodulin, and is required for association with spectrin and actin. Alternatively spliced adducin gamma transcripts encoding different isoforms have been described. The functions of the different isoforms are not known. [provided by RefSeq, Jul 2008]

基因突變所影響的基因信息

Adducins是由不同的亞基組成的異聚蛋白，分別稱為adducinα，β和gamma。這三個(gè)亞基由不同的基因編碼，屬于紅細(xì)胞中血影蛋白-肌動(dòng)蛋白網(wǎng)絡(luò)的組裝以及上皮組織中細(xì)胞與細(xì)胞接觸部位的膜骨架蛋白家族。盡管adducinsα和γ普遍存在，但adducin beta的表達(dá)僅限于大腦和造血組織。發(fā)現(xiàn)賊初從人紅細(xì)胞中純化的Adducin是Adducinsα和β的異二聚體。導(dǎo)致這兩個(gè)亞基中氨基酸取代的多態(tài)性與高血壓動(dòng)物模型中的血壓調(diào)節(jié)有關(guān)。還已經(jīng)描述了由α和γ亞基組成的異二聚體。在結(jié)構(gòu)上，每個(gè)亞基由兩個(gè)不同的??

國際國內(nèi)該堿基因序列的其他英語文字母簡稱：

ADDL, CPSQ3

基因解碼對該基因序列在細(xì)胞核中的染色體所給予的編號：

該基因序列位于人類第10號染色體上。

基因解碼對基因序列的正確定位

該基因序列在GRCh37版本中的起始位置坐標(biāo)為：111765627；結(jié)束位置坐標(biāo)為：111895323。該基因序列在GRCh38版本中的起始位置坐標(biāo)為：109996350；結(jié)束位置坐標(biāo)為：110135565。正確的基因信息定位是基因檢測和對檢測結(jié)果進(jìn)行正確解讀的關(guān)鍵。