SUPT20H
Description
The SUPT20H (SPT20 homolog, SAGA complex component) is a protein-coding gene located on chromosome 13.
The SUPT20H gene encodes the SPT20 homolog protein in humans.
The SUPT20H protein is essential for the activation of MAP kinase p38 (MAPK11, MAPK12, MAPK13, and/or MAPK14) during gastrulation. It also plays a role in the downregulation of E-cadherin during gastrulation by regulating E-cadherin protein levels downstream from NCK-interacting kinase (NIK). This regulation is independent of the transcription control exerted by FGF signaling and Snail. Additionally, the SUPT20H protein is necessary for starvation-induced ATG9A trafficking during autophagy.
SUPT20H is also known as C13, C13orf19, FAM48A, FP757, P38IP, SPT20.
Associated Diseases
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
- isolated spina bifida
- spina bifida-hypospadias syndrome
- craniorachischisis
- anencephaly 1
- colorectal cancer
- polyarticular arthritis
- cancer
- Miyoshi myopathy
