HMX1 gene

H6 family homeobox 1

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

From NCBI Gene:

This gene encodes a transcription factor that belongs to the H6 family of homeobox proteins. This protein can bind a 5'-CAAG-3' core DNA sequence, and it is involved in the development of craniofacial structures. Mutations in this gene cause oculoauricular syndrome, a disorder of the eye and external ear. [provided by RefSeq, Oct 2009]

From UniProt:

DNA-binding protein that binds to the 5'-CAAG-3' core sequence. May function as a transcriptional repressor. Seems to act as a transcriptional antagonist of NKX2-5. May play an important role in the development of craniofacial structures such as the eye and ear.

From NCBI Gene:

  • Oculoauricular syndrome

From UniProt:

Oculoauricular syndrome (OCACS): A syndrome characterized by microphthalmia, microcornea, anterior segment dysgenesis, cataract, ocular coloboma, retinal pigment epithelium abnormalities, rod-cone dystrophy, and anomalies of the external ear. [MIM:612109]

Cytogenetic Location: 4p16.1, which is the short (p) arm of chromosome 4 at position 16.1

Molecular Location: base pairs 8,846,076 to 8,871,817 on chromosome 4 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 4p16.1, which is the short (p) arm of chromosome 4 at position 16.1
  • H6
  • NKX5-3