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Table 1 KCTD proteins and related diseases

From: The KCTD family of proteins: structure, function, disease relevance

  Disease KCTD - related Function of KCTD proteins in disease Reference
Cancer Gastrointestinal stromal tumor KCTD12 biomarker Ref. [43]
KCTD10 prognostic biomarker
Medulloblastoma KCTD11 Suppress Histone Deacetylase and Hedgehog activity in medulloblastoma Ref. [17]; Ref. [19]; Ref. [39];
KCTD21
KCTD6
Neurological disease Progressive Myoclonic Epilepsy (PME) KCTD7 KCTD7 mutations might be a recurrent cause of PME Ref. [30]; Ref. [31]; Ref. [37]; Ref. [38]
Abnormal Head Size KCTD13 overexpression microcephaly phenotype Ref. [40]
underexpression macrocephaly phenotype
Metabolic disorder HDL cholesterol concentration KCTD10 KCTD10 (V206VT - > C and i5642G - > C) may contribute to the variation in HDL-cholesterol concentrations, particularly in subjects with high carbohydrate intakes. Ref. [42]
Others Influence EPO production KCTD2 Production of erythropoietin (EPO) was significantly inhibited when CEBPG, KCTD2, and TMEM183A were knocked down Ref. [44]
Live injury of HBV-ACLF KCTD9 The overexpressed KCTD9 activates NK cell in peripheral blood and liver in HBV-ACLF, which contributes to liver injury Ref. [45]; Ref. [46]
Chronic Tinnitus KCTD12 Risk modifier Ref. [22]
Scalp-ear-nipple(SEN) syndrome KCTD1 missense mutation in KCTD1 causes SEN syndrome Ref. [41]