SIX6

SIX homeobox 6

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in eye development. Defects in this gene are a cause of isolated microphthalmia with cataract type 2 (MCOPCT2). [provided by RefSeq, Jul 2008]

From UniProt:

May be involved in eye development.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Cataract, microphthalmia and nystagmus
  • Microphthalmia syndromic 3

From UniProt:

Optic disk anomalies with retinal and/or macular dystrophy (ODRMD): An ocular disorder characterized by optic nerve dysplasia, optic disk anomalies, chorioretinal dystrophy and macular atrophy. Some patients have microphthalmia. [MIM:212550]

Cytogenetic Location: 14q23.1, which is the long (q) arm of chromosome 14 at position 23.1

Molecular Location: base pairs 60,509,220 to 60,511,807 on chromosome 14 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 14q23.1, which is the long (q) arm of chromosome 14 at position 23.1
  • MCOPCT2
  • ODRMD
  • OPTX2
  • Six9