VAX1 gene

ventral anterior homeobox 1

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

From NCBI Gene:

This gene encodes a homeo-domain containing protein from a class of homeobox transcription factors which are conserved in vertebrates. Genes of this family are involved in the regulation of body development and morphogenesis. The most conserved genes, called HOX genes are found in special gene clusters. This gene belongs to the VAX subfamily and lies in the vicinity of the EMX homeobox gene family. Another member of VAX family is located on chromosome 2. The encoded protein may play an important role in the development of anterior ventral forebrain and visual system. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

From UniProt:

Transcription factor that may function in dorsoventral specification of the forebrain. Required for axon guidance and major tract formation in the developing forebrain. May contribute to the differentiation of the neuroretina, pigmented epithelium and optic stalk.

From NCBI Gene:

  • Microphthalmia, syndromic 11

From UniProt:

Microphthalmia, syndromic, 11 (MCOPS11): A rare clinical entity including as main characteristics microphthalmia and small optic nerves, cleft lip and palate, absence of corpus callosum, hippocampal malformations, and absence of the pineal gland. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. [MIM:614402]

Cytogenetic Location: 10q25.3, which is the long (q) arm of chromosome 10 at position 25.3

Molecular Location: base pairs 117,128,521 to 117,138,301 on chromosome 10 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 10q25.3, which is the long (q) arm of chromosome 10 at position 25.3
  • MCOPS11