HOXA2
Function
Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.
Involvement in disease
Microtia, hearing impairment, and cleft palate
MHICP
A disease characterized by microtia, mixed symmetric severe to profound hearing impairment, and partial cleft palate. Microtia is a congenital deformity of the outer ear that is small and abnormally shaped. In classic microtia, the pinna is essentially absent, except for a vertical sausage-shaped skin remnant. The superior aspect of this sausage-shaped skin remnant consists of underlying unorganized cartilage, and the inferior aspect of this remnant consists of a relatively well-formed lobule. Syndromic forms of microtia occur in conjunction with other abnormalities including cleft palate, a congenital fissure of the soft and/or hard palate due to faulty fusion.
None
The disease is caused by variants affecting the gene represented in this entry.
Microtia with or without hearing impairment
MCRT
Microtia is a congenital deformity of the outer ear that is small and abnormally shaped. In classic microtia, the pinna is essentially absent, except for a vertical sausage-shaped skin remnant. The superior aspect of this sausage-shaped skin remnant consists of underlying unorganized cartilage, and the inferior aspect of this remnant consists of a relatively well-formed lobule.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the Antp homeobox family. Proboscipedia subfamily.
Cellular localization
- Nucleus
Alternative names
HOX1K, HOXA2, Homeobox protein Hox-A2, Homeobox protein Hox-1K