This gene encodes a paired-like homeodomain transcription factor in the developing pituitary gland. Expression occurs prior to and is required for expression of pou domain transcription factor 1, which is responsible for pituitary development and hormone expression. Mutations in this gene have been associated with combined pituitary hormone deficiency-2 as well as deficiencies in luteinizing hormone, follicle-stimulating hormone, growth hormone, prolactin, and thyroid-stimulating hormone. [provided by RefSeq, Sep 2011]
Function:
Possibly involved in the ontogenesis of pituitary gonadotropes, as well as somatotropes, lactotropes and caudomedial thyrotropes.
Subcellular Location:
Nucleus
DISEASE:
Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD2 is characterized by pleiotropic deficiencies of growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, prolactin and adrenocorticotropic hormone.
Similarity:
Belongs to the paired homeobox family.
Contains 1 homeobox DNA-binding domain.
SWISS:
O7572
Gene ID:
5626
Database links:
Entrez Gene: 5626 Human
Entrez Gene: 266738 Rat
Omim: 601538 Human
SwissProt: O7572 Human
Unigene: 158301 Human
Unigene: 86655 Rat
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