HOX genes play a fundamental role in the development of the vertebrate central nervous system, heart, axial skeleton, limbs, gut, urogenital tract and external genitalia. The homeobox gene Hoxa-1 is transcriptionally regulated by retinoic acid (RA) and encodes a transcription factor, which has been shown to play important roles in cell differentiation and embryogenesis. Hoxa-1 is also expressed in cancers, such as mammary tumors, though it is not expressed in normal gland or in precancerous mammary tissues. At embryonic stages, Hoxa-2 is expressed in the mesenchyme and epithelial cells of palate, however its expression is restricted to the tips of the growing palatal shelves. Hoxa-2 protein is predominantly expressed in the nuclei of cells in the ventral mantle region of the developing embryo. In the developing and adult mouse spinal cord, Hoxa-2 protein may contribute to dorsal-ventral patterning and/or to the specification of neuronal phenotype. Hoxa-7 functions as a potent transcriptional repressor and its action as such requires several domains, including both activator and repressor regions. Hoxa-7 is expressed in the fetal liver, lung, skeletal muscle, kidney, pancreas and placenta
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.
Subcellular Location:
Nucleus.
DISEASE:
Defects in HOXA2 are a cause of microtia hearing impairment and cleft palate (MHICP) [MIM:612290]. Microtia is a congenital deformity of the outer ear and occurs in approximately one in 8'000-10'000 births. It is characterized by a small, abnormally shaped outer ear. It can be unilateral or bilateral. Syndromic forms of microtia occur in conjunction with other abnormalities. The most common associated malformations is the cleft palate, a congenital fissure of the soft and/or hard palate due to faulty fusion. Defects in HOXA2 are a cause of autosomal-recessive bilateral microtia, mixed symmetrical severe to profound hearing impairment and partial cleft palate.
Similarity:
Belongs to the Antp homeobox family. Proboscipedia subfamily.
Contains 1 homeobox DNA-binding domain.
SWISS:
O43364
Gene ID:
3199
Database links:
Entrez Gene: 3199 Human
Entrez Gene: 15399 Mouse
Entrez Gene: 24452 Rat
Omim: 604685 Human
SwissProt: O43364 Human
SwissProt: P31245 Mouse
SwissProt: P31246 Rat
Unigene: 445239 Human
Unigene: 592177 Human
Unigene: 131 Mouse
Unigene: 91077 Rat
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