MEOX1 (mesenchyme homeobox 1) — Gene

What This Gene Does

This gene encodes a member of a subfamily of non-clustered, diverged, antennapedia-like homeobox-containing genes. The encoded protein may play a role in the molecular signaling network regulating somite development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

Gene Info

Gene Group

HOXL subclass homeoboxes

Locus Type

gene with protein product

Location

17q21.31

Ensembl

ENSG00000005102

Associated Conditions (4)

Inborn genetic diseases

MEOX1-related disorder

Klippel-Feil syndrome 2

autosomal recessive

Key Variants

RS140721400

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS141693578

Conflicting classifications of pathogenicity

Health Risk

RS1567750527

Likely pathogenic

Klippel-Feil syndrome 2, autosomal recessive, Klippel-Feil syndrome 2

Health Risk

Health Risk

Klippel-Feil syndrome 2, autosomal recessive, Klippel-Feil syndrome 2

Health Risk

RS772798486

Pathogenic

Klippel-Feil syndrome 2, autosomal recessive, Klippel-Feil syndrome 2

Health Risk

All Variants (6)

RSID	Category	Clinical Significance	Conditions
RS140721400	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS141693578	Health Risk	Conflicting classifications of pathogenicity	MEOX1-related disorder, MEOX1-related disorder
RS1567750527	Health Risk	Likely pathogenic	Klippel-Feil syndrome 2, autosomal recessive, Klippel-Feil syndrome 2
RS1973143259	Health Risk	Pathogenic	—
RS713993044	Health Risk	Pathogenic	Klippel-Feil syndrome 2, autosomal recessive, Klippel-Feil syndrome 2
RS772798486	Health Risk	Pathogenic	Klippel-Feil syndrome 2, autosomal recessive, Klippel-Feil syndrome 2

MEOX1 Chromosome 17