NACC1

On this page, you will find information about a genetic change that was identified in a UDN participant.

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 the NACC1 gene was identified in a male, age 20 months, with seizures, cataracts, a small head size (microcephaly), and global developmental delay (read full description).

Date of Report

Jul 01, 2016

Full Name

Nucleus accumbens associated 1

Location

Chromosome 19 (19p13.2)

Function

The NACC1 gene codes for a protein involved in transcriptional repression (Korutla et al., 2002).

Database Links

GeneCards: NACC1

NCBI Gene: 112939

OMIM: 610672

UniProtKB/Swiss-Prot: Q96RE7

Clinical Significance

A change in this gene was identified in a UDN participant and other individuals with similar symptoms (Schoch et al, 2017) (OMIM 617393).

Families affected by this condition have formed a Facebook group to connect with one another and share information. More information about the condition can be found on the Nigel Prosser Foundation and Mass General Brigham websites.

Gene	Inheritance	Position (hg19)	Transcript	DNA Change	Protein Change
NACC1	Unknown	chr19:g.13246913C>T	NM_052876.3	c.892C>T	p.Arg298Trp

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