SAP30L

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.

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A change in this gene was identified in a female, age 14 with severe epileptic encephalopathy, global developmental delay, and clumsy, broad-based gait (read full description). 

Date of Report

Sep 01, 2020

Full Name

Sin3A-associated protein 30-like

Location
Chromosome 5 (5q33.2)
sap30l.png

Function
SAP30L, also known as Sin3A-associated protein 30-like, is a component of a SAP30 subunit that interacts with the Rpd3L/Sin3L complex. This interaction can alter histone code, thus inhibiting the expression of various genes (Xie et al. 2011).
Database Links

GeneCards: GC05P154445

NCBI Gene: 79685

OMIM: 610398

UniProtKB/Swiss-Prot: Q9HAJ7

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 SAP30L
Inheritance Pattern de novo
Position Chr5: 153835504
Transcript NM_024632.5
DNA Change c.468G>C
Protein Change p.Glu156Asp
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