rs140709867

This is a variant in the MLX gene that changes a arginine to an cysteine.

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ClinVar annotation

Pathogenic★★★☆
7 submitters9 publications

Neurodegeneration with brain iron accumulation (NBIA); Neurodegeneration with brain iron accumulation 6 (NBIA6)

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About MLX

The product of this gene belongs to the family of basic helix-loop-helix leucine zipper (bHLH-Zip) transcription factors. These factors form heterodimers with Mad proteins and play a role in proliferation, determination and differentiation. This gene product may act to diversify Mad family function by its restricted association with a subset of the Mad family of transcriptional repressors, namely, Mad1 and Mad4. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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