This gene encodes a member of the trypsin family of serine proteases. This protein is a secreted enzyme that is proposed to regulate the availability of insulin-like growth factors (IGFs) by cleaving IGF-binding proteins. It has also been suggested to be a regulator of cell growth. Variations in the promoter region of this gene are the cause of susceptibility to age-related macular degeneration type 7. [provided by RefSeq, Jul 2008]
Function:
Protease that regulate the availability of nsulin-like growth factors (IGFs) by cleaving IGF-binding proteins. Represses signaling by TGF-beta family members.
Subunit:
Forms homotrimers. In the presence of substrate, may form higher-order multimers in a PDZ-independent manner. Interacts with TGF-beta family members, including BMP4, TGFB1, TGFB2, activin A and GDF5.
Subcellular Location:
Secreted.
Tissue Specificity:
Expressed in a variety of tissues, with strongest expression in placenta.
DISEASE:
Variations in the promoter region of HTRA1 are the cause of susceptibility to age-related macular degeneration type 7 (ARMD7) [MIM:610149]. ARMD is the leading cause of vision loss and blindness among older individuals in the developed word. It is classified as either dry (nonneovascular) or wet (neovascular). ARMD7 is a wet form, in which new blood vessels form and break beneath the retina. This leakage causes permanent damage to surrounding retinal tissue, distorting and destroying central vision. Wet ARMD is more prevalent among Asians than Caucasians.
Defects in HTRA1 are the cause of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) [MIM:600142].
CARASIL is characterized by nonhypertensive cerebral small-vessel arteriopathy with subcortical infarcts, alopecia, and spondylosis, with an onset in early adulthood. On neuropathological examination, arteriosclerosis associated with intimal thickening and dense collagen fibers, loss of vascular smooth-muscle cells, and hyaline degeneration of the tunica media has been observed in cerebral small arteries.
SWISS:
Q92743
Gene ID:
5654
Database links:
Entrez Gene: 282326 Cow
Entrez Gene: 5654 Human
Entrez Gene: 56213 Mouse
Entrez Gene: 65164 Rat
Omim: 602194 Human
SwissProt: F1N152 Cow
SwissProt: Q92743 Human
SwissProt: Q9R118 Mouse
SwissProt: Q9QZK5 Rat
Unigene: 50256 Human
Unigene: 30156 Mouse
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