Table 1 KCTD proteins and related diseases

Gastrointestinal stromal tumor

biomarker

Ref. [43]

prognostic biomarker

Medulloblastoma

Suppress Histone Deacetylase and Hedgehog activity in medulloblastoma

Ref. [17]; Ref. [19]; Ref. [39];

Progressive Myoclonic Epilepsy (PME)

KCTD7 mutations might be a recurrent cause of PME

Ref. [30]; Ref. [31]; Ref. [37]; Ref. [38]

Abnormal Head Size

overexpression microcephaly phenotype

Ref. [40]

underexpression macrocephaly phenotype

HDL cholesterol concentration

KCTD10 (V206VT - > C and i5642G - > C) may contribute to the variation in HDL-cholesterol concentrations, particularly in subjects with high carbohydrate intakes.

Ref. [42]

Influence EPO production

Production of erythropoietin (EPO) was significantly inhibited when CEBPG, KCTD2, and TMEM183A were knocked down

Ref. [44]

Live injury of HBV-ACLF

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

Risk modifier

Ref. [22]

Scalp-ear-nipple(SEN) syndrome

missense mutation in KCTD1 causes SEN syndrome

Ref. [41]