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ATAD3A

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 the ATAD3A gene was identified in a male, who passed away at 19 months, with poor growth, small head (severe progressive microcephaly), global developmental delay, vision and hearing impairment, autoimmune disease, and brain abnormalities (read full description).

Date of Report

Mar 16, 2022

Full Name

ATPase Family AAA Domain Containing 3A

Location
Chromosome 1 (1p36.33)
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Function

The ATAD3A gene encodes for a mitochondrial membrane protein that is involved in many critical cellular processes such as mitochondrial dynamics, cell death, and cholesterol metabolism (Teng, et al., 2019).  This gene has been associated with Harel-Yoon syndrome (OMIM: 617183) and with neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome (OMIM: 618810).

Database Links

GeneCards: ATAD3A

NCBI Gene: 55210

OMIM: 612316

UniProtKB/Swiss-Prot: Q9NVI7

Clinical Significance

A de novo partial duplication in this gene was identified in a UDN participant. The duplication involves the ATAD3A, ATAD3B, and ATAD3C genes.

Gene ATAD3A
Inheritance Pattern Unknown
Position (hg19) chr1:g.1404883_ 1451417dup
Transcript N/A
DNA Change ~47kb complex duplication involving ATAD3A/B/C
Protein Change TBD
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