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ABCA3

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 ABCA3 gene was identified in a UDN participant with low oxygen level in the blood (chronic hypoxemia), lung disease that causes lung scarring (pulmonary fibrosis), respiratory failure, and delayed speech and language development.

Date of Report

Oct 16, 2023

Full Name

ATP binding cassette subfamily A member 3

Location
Chromosome 16p13.3
ABCA3.png

Function

ABCA3 catalyzes the ATP-dependent transport of phospholipids, participates in the biogenesis of lamellar bodies and it helps maintain a state of balance of pulmonary surfactant (Li et al., 2019,Wittmann et al., 2016, Matsumura et al., 2006; Hoppner et al., 2017). ABCA3 plays a role as a transporter of miltefosine and removes free cholesterol as a component of surfactant (Dohmen et al., 2016, Zarbock et al., 2015, Wittmann et al., 2016).  

Database Links

GeneCards: ABCA3  

MedlinePlus Genetics: ABCA3 

NCBI Gene: 21 

OMIM: 601615  

UniProtKB/Swiss-Prot: Q99758 

Clinical Significance

Heterozygous changes in this gene were identified in a UDN participant.

Gene ABCA3
Inheritance Pattern Unknown
Position (hg19) chr16: g.2347420C>T
Transcript NM_001089.2
DNA Change c.2173G>A
Protein Change p.Glu725Lys
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