Mesenchyme Homeobox 1

Alternative Names

  • MEOX1
  • MOX1 Diverged Homeobox Gene
  • MOX1, Mouse, Homolog of
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OMIM Number

600147

NCBI Gene ID

4222

Uniprot ID

P50221

Length

21,589 bases

No. of Exons

4

No. of isoforms

3

Protein Name

Homeobox protein MOX-1

Molecular Mass

27997 Da

Amino Acid Count

254

Genomic Location

chr17:43,640,388-43,661,976

Gene Map Locus
17q21.31

Description

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. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_004527.4:c.94delSaudi ArabiaNC_000017.11:g.43661444delPathogenicPathogenicKlippel-Feil Syndrome 2, Autosomal RecessiveNG_032987.1:g.5454del; NM_004527.4:c.94del; NP_004518.1:p.Ala32ProfsTer165156775052739507
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