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 the SAP30L gene was identified in a female, age 14, with severe epileptic encephalopathy, global developmental delay, and a 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)

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: SAP30L

NCBI Gene: 79685

OMIM: 610398

UniProtKB/Swiss-Prot: Q9HAJ7

Clinical Significance

A de novo 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 Unknown

Position (hg19) chr5:g.153835504G>C

Transcript NM_024632.5

DNA Change c.468G>C

Protein Change p.Glu156Asp

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