ATAD3B

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 ATAD3B 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 3B

Location

Chromosome 1 (1p36.33)

Function

The ATAD3B gene encodes for an inner mitochondrial membrane protein that mediates the removal of damaged mitochondrial DNA through a selective mitochondrial degradation process known as mitophagy (Shu, et al., 2021).

Database Links

GeneCards: ATAD3B

NCBI Gene: 83858

OMIM: 612317

UniProtKB/Swiss-Prot: Q5T9A4

Clinical Significance

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

Gene ATAD3B

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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