Six Homeobox 6

Alternative Names

  • SIX6
  • Sine Oculis Homeobox, Drosophila, Homolog of, 6
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OMIM Number

606326

NCBI Gene ID

4990

Uniprot ID

O95475

Length

3,705 bases

No. of Exons

2

No. of isoforms

1

Protein Name

Homeobox protein SIX6

Molecular Mass

27687 Da

Amino Acid Count

246

Genomic Location

chr14:60,509,145-60,512,849

Gene Map Locus
14q23.1

Description

The SIX gene family consists of six members (SIX1–SIX6), which all contain two shared protein domains; a DNA binding homeobox domain and a SIX domain, which binds downstream effector molecules.  These genes are conserved and were originally identified through homology to the Drosophila melanogaster (Drosophila) Sine Oculis (SO) gene, which is required for proper eye development. SIX6 is closely related to SIX3 and is expressed in the developing and adult human retina.  It is also expressed in the hypothalamic and the pituitary regions.

Defects in this gene are the cause of optic disk anomalies with retinal and/or macular dystrophy, characterized by optic nerve dysplasia, optic disk anomalies, chorioretinal dystrophy and macular atrophy.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_007374.3:c.532_536delSyriaNC_000014.9:g.60509930_60509934delLikely Pathogenic, PathogenicLikely Pathogenic, PathogenicOptic Disc Anomalies with Retinal and/or Macular DystrophyNG_008203.1:g.5711_5715del; NM_007374.3:c.532_536del; NP_031400.2:p.Asn178fs786205142189377
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