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ALDH1L2

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 ALDH1L2 gene was identified in a female, age 5, with seizures (tonic seizures and spasms) that are resistant to treatment (refractory), global developmental delay, autism, and intermittent problems with coordination (gait ataxia) (read full description).

Date of Report

Nov 10, 2020

Full Name

aldehyde dehydrogenase 1 family member L2

Location
Chromosome 12 (12q23.3)
ALDH1L2-gene.png

Function

The ALDH1L2 gene codes for a 10-formyltetrahydrofolate dehydrogenase (FDH) that is responsible for converting 10-formyltetrahydrofolate to tetrahydrofolate and CO2 via a NADP(+)-dependent reaction. It plays an essential role in the distribution of one-carbon groups between the cytosolic and mitochondrial compartments of the cell (Krupenko et al., 2010).

Database Links

GeneCards: ALDH1L2

NCBI Gene: 160428

OMIM: 613584

UniProtKB/Swiss-Prot: Q3SY69

Clinical Significance

A 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 ALDH1L2
Inheritance Pattern Unknown
Position (hg19) chr12:g.105456759CA>C
Transcript NM_001034173.3
DNA Change c.827del
Protein Change p.Val276GlyfsTer33
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