PPM1L
Description
The PPM1L (protein phosphatase, Mg2+/Mn2+ dependent 1L) is a protein-coding gene located on chromosome 3.
PPM1L acts as a suppressor of the SAPK signaling pathways. It achieves this by associating with and dephosphorylating MAP3K7/TAK1 and MAP3K5, effectively reducing their activity. Additionally, PPM1L weakens the interaction between MAP3K7/TAK1 and MAP2K4 or MAP2K6, further dampening the signaling cascade.
PPM1L is also known as PP2C-epsilon, PP2CE, PPM1-LIKE.
Associated Diseases
- coronary artery disease, autosomal dominant 2
- obesity due to melanocortin 4 receptor deficiency
- hypoinsulinemic hypoglycemia and body hemihypertrophy
- PLIN1-related familial partial lipodystrophy
- spinocerebellar ataxia type 23
- familial partial lipodystrophy, Kobberling type
- cystic leukoencephalopathy without megalencephaly
- neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities
- autosomal recessive spastic paraplegia type 67
- diabetes mellitus, permanent neonatal 4
- abdominal obesity-metabolic syndrome 4
- PPARG-related familial partial lipodystrophy
