HELT
Description
The HELT (helt bHLH transcription factor) is a protein-coding gene located on chromosome 4.
This protein acts as a transcriptional repressor, specifically binding to the DNA sequence 5'-CACGCG-3' known as the E box.
HELT is also known as HCM1228, HESL, Mgn, bHLHb44.
Associated Diseases
- lesion of sciatic nerve
- essential hypertension
- developmental and epileptic encephalopathy, 9
- autosomal dominant epilepsy with auditory features
- cancer
- developmental and epileptic encephalopathy 104
- benign familial infantile epilepsy
- isolated focal cortical dysplasia
- lissencephaly 10
- continuous spikes and waves during sleep
- generalized epilepsy with febrile seizures plus, type 2
- developmental and epileptic encephalopathy, 13
- developmental delay, impaired speech, and behavioral abnormalities, with or without seizures
- guanidinoacetate methyltransferase deficiency
- neurodevelopmental disorder with hypotonia and gross motor and speech delay
