GABPB1
Description
The GABPB1 (GA binding protein transcription factor subunit beta 1) is a protein-coding gene located on chromosome 15.
GABPB1 is a transcription factor that interacts with purine-rich repeats (GA repeats). It plays a key role in regulating the expression of nuclear-encoded mitochondrial genes.
GABPB1 is also known as BABPB2, E4TF1, E4TF1-47, E4TF1-53, E4TF1B, GABPB, GABPB-1, GABPB2, NRF2B1, NRF2B2.
Associated Diseases
- spastic paraplegia-glaucoma-intellectual disability syndrome
- hereditary spastic paraplegia 34
- hereditary spastic paraplegia 24
- intellectual disability-spasticity-ectrodactyly syndrome
- spastic ataxia 4
- X-linked parkinsonism-spasticity syndrome
- mitochondrial DNA depletion syndrome 4a
- multiple sclerosis
- hyperinsulinemic hypoglycemia, familial, 4
- gastrointestinal stromal tumor
