MTHFD1

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 this gene was identified in a UDN participant with a weakened immune system, mitochondrial deficiency, delayed stomach emptying, and multiple congenital anomalies. Research is underway to see if this change is causing symptoms in this participant (read full description).

Date of Report

Apr 12, 2022

Full Name

Methylenetetrahydrofolate Dehydrogenase 1

Location
Chromosome 14 (14q23.2)
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Function

MTHFD1 gene encodes a trifunctional protein involved in the conversion of 1-carbon derivatives of tetrahydrofolate (Hum et al., 1988).

Database Links

GeneCards: GC14P064388

NCBI Gene: 4522

OMIM: 172460

UniProtKB/Swiss-Prot: P11586

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 MTHFD1
Inheritance Pattern Autosomal Recessive
Position (hg19) chr4:g.64877827C>T
Transcript NM_005956.3
DNA Change c.146C>T
Protein Change p.Ser49Phe
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