CCPG1

Description

The CCPG1 (cell cycle progression 1) is a protein-coding gene located on chromosome 15.

CCPG1 acts as an assembly platform for Rho protein signaling complexes, specifically regulating the interaction of MCF2L with RHOA. It limits MCF2L's guanine nucleotide exchange activity towards RHOA, thereby inhibiting RHOA's transcriptional activation and transforming abilities. However, CCPG1 does not affect MCF2L's activity towards CDC42, or MCF2's activity towards either RHOA or CDC42. CCPG1 may also play a role in cell cycle regulation.

CCPG1 is also known as CPR8.

Associated Diseases

• developmental and epileptic encephalopathy
• hyperphosphatasia-intellectual disability syndrome
• hereditary chronic pancreatitis
• isolated asymptomatic elevation of creatine phosphokinase
• pentosuria
• pancreatic agenesis 1
• annular pancreas
• pancreatic agenesis 2
• myopathy due to calsequestrin and SERCA1 protein overload
• bronchiectasis with or without elevated sweat chloride 1
• metabolic myopathy due to lactate transporter defect
• hyperinsulinemic hypoglycemia, familial, 2
• pancreatic colipase deficiency
• duodenal atresia
• neutropenia, severe congenital, 8, autosomal dominant