SUPT6H

On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

A change in this gene was identified in a male, age 4 with involuntary movements (choreoathetosis), global developmental delay, epileptic encephalopathy, eye turning inward (alternating esotropia), episodic eye rolling, and low muscle tone in trunk (axial hypotonia) (read full description).

Date of Report

Jul 16, 2019

Full Name

SPT6 homolog, histone chaperone and transcription elongation factor

Location
Chromosome 17 (17q11.2)


Function

The SUPT6H gene is a homologue to the SPT6 gene in yeast. It is assumed that it has similar functioning to the SPT6 gene, which regulates transcription and helps maintain chromatin structure (Chiang et al., 1996).

Database Links

GeneCards: GC17P028662

NCBI Gene: 6830

OMIM: 601333

UniProtKB/Swiss-Prot: Q7KZ85

Clinical Significance

A change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.

Gene SUPT6H
Inheritance Pattern Unknown
Position Chr17:27003232
Transcript NM_003170.3
DNA Change c.681G>T
Protein Change p.Glu227Asp
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