rs142098262

This variant is located in the MTRR gene.

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ClinVar annotation

Likely Benign★★★☆

3 submitters1 publication

not specified; Methylcobalamin deficiency type cblE; Disorders of Intracellular Cobalamin Metabolism

About MTRR

This gene encodes a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. This protein functions in the synthesis of methionine by regenerating methionine synthase to a functional state. Because methionine synthesis requires methyl-group transfer by a folate donor, activity of the encoded enzyme is important for folate metabolism and cellular methylation. Mutations in this gene can cause homocystinuria-megaloblastic anemia, cbl E type. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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