Iroquois Homeobox Protein 5

Alternative Names

  • IRX5
  • IRXB2

Associated Diseases

Hamamy Syndrome
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OMIM Number

606195

NCBI Gene ID

10265

Uniprot ID

P78411

Length

3,621 bases

No. of Exons

4

No. of isoforms

3

Protein Name

Iroquois-class homeodomain protein IRX-5

Molecular Mass

50361 Da

Amino Acid Count

483

Genomic Location

chr16:54,930,864-54,934,484

Gene Map Locus
16q12.2

Description

This gene encodes a member of the iroquois homeobox gene family, which are involved in several embryonic developmental processes. Knockout mice lacking this gene show that it is required for retinal cone bipolar cell differentiation, and that it negatively regulates potassium channel gene expression in the heart to ensure coordinated cardiac repolarization. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_005853.6:c.503G>ALebanonNC_000016.10:g.54932751G>APathogenicLikely PathogenicHamamy SyndromeNG_032773.1:g.6553G>A; NM_005853.6:c.503G>A; NP_005844.4:p.Arg168His21423539821695336
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