TTC37 gene: MedlinePlus Genetics
The TTC37 gene provides instructions for making a protein whose function has not been confirmed. Learn about this gene and related health conditions.
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The TTC37 gene provides instructions for making a protein whose function has not been confirmed. Learn about this gene and related health conditions.
Trichohepatoenteric syndrome (THES) is a rare autosomal recessive genetic disease caused by pathogenic mutations in TTC37 or SKIV2L gene. The presentation is variable, including intractable diarrhea, woolly hair abnor...
Jan 15, 2026 · Complete information for SKIC3 gene (Protein Coding), SKI3 Subunit Of Superkiller Complex, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
Fabre et al. (2011) assessed quantitative expression of TTC37 in a panel of 48 different tissues and found that TTC37 is widely expressed, with the highest levels observed in vascular tissues, lymph node, pituitary, l...
TTC37的详细信息,包括基因名称,代码,染色体位置,相互作用关系和通路,简述为该基因编码具有二十三十四肽(TPR)重复序列的蛋白质。 含有基序三十四肽重复序列中的各种蛋白质的发现和可能介导蛋白质 - 蛋白质相互作用和分子伴侣的活性。
结构 多肽 链的长度为1,564个 氨基酸, 分子量 为175,486 Da 。 TTC37包含六个 四肽重复 域。 功能 TTC37是与 外泌体 介导的 RNA 衰变有关的 滑雪络合物 的组成部分。 亚细胞分布 它位于 细胞质 空间和 细胞核 中。 临床意义 TTC37基因中的突变与 毛 - 霍帕托 - 结合综合 ...
DISEASE: Defects in TTC37 are the cause of trichohepatoenteric syndrome type 1 (THES1) [MIM:222470]. A syndrome characterized by intrauterine growth retardation, severe diarrhea in infancy requiring total parenteral n...