LHX2 Chromosome 9

LIM homeobox 2

1 variant 1 Health Risk

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What This Gene Does

This gene encodes a protein belonging to a large protein family, members of which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein may function as a transcriptional regulator. The protein can recapitulate or rescue phenotypes in Drosophila caused by a related protein, suggesting conservation of function during evolution. [provided by RefSeq, Jul 2008]

Gene Info

Gene Group

LIM class homeoboxes

Locus Type

gene with protein product

Location

9q33.3

Ensembl

ENSG00000106689

Associated Conditions (1)

Variable neurodevelopmental disorder

Key Variants

RS2540147394

Likely pathogenic

Variable neurodevelopmental disorder, Variable neurodevelopmental disorder

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS2540147394	Health Risk	Likely pathogenic	Variable neurodevelopmental disorder, Variable neurodevelopmental disorder