DMBX1 Chromosome 1

Diencephalon/mesencephalon homeobox 1

1 variant 1 Health Risk

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What This Gene Does

This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and may play a role in brain and sensory organ development. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

Gene Info

Gene Group

PRD class homeoboxes and pseudogenes

Locus Type

gene with protein product

Location

1p33

Ensembl

ENSG00000197587

Associated Conditions (1)

6 conditions

Key Variants

RS730882203

Likely pathogenic

6 conditions, 6 conditions

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS730882203	Health Risk	Likely pathogenic	6 conditions, 6 conditions