Gene: LOC105378526
Alternate names for this Gene:
Gene Summary:
Gene is located in Chromosome:
Location in Chromosome :
Description of this Gene:
Type of Gene:
Gene: HTRA1
Alternate names for this Gene: ARMD7|CADASIL2|CARASIL|HtrA|L56|ORF480|PRSS11
Gene Summary: 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.
Gene is located in Chromosome: 10
Location in Chromosome : 10q26.13
Description of this Gene: HtrA serine peptidase 1
Type of Gene: protein-coding
rs113993968 in
LOC105378526;HTRA1 gene and
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
PMID 11889251 2002 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy.
PMID 19387015 2009 Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease.
PMID 25772074 2015 A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population.
PMID 26063658 2015 Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease.
PMID 25770224 2015 Loss of HtrA1-induced attenuation of TGF-β signaling in fibroblasts might not be the main mechanism of CARASIL pathogenesis.
PMID 25957642 2015 A novel HTRA1 exon 2 mutation causes loss of protease activity in a Pakistani CARASIL patient.
PMID 27164673 2016 Distinct molecular mechanisms of HTRA1 mutants in manifesting heterozygotes with CARASIL.
rs1554950703 in
LOC105378526;HTRA1 gene and
Mental deterioration
PMID 25957642 2015 A novel HTRA1 exon 2 mutation causes loss of protease activity in a Pakistani CARASIL patient.
PMID 26063658 2015 Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease.
PMID 27164673 2016 Distinct molecular mechanisms of HTRA1 mutants in manifesting heterozygotes with CARASIL.
PMID 19387015 2009 Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease.
PMID 25772074 2015 A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population.
PMID 25770224 2015 Loss of HtrA1-induced attenuation of TGF-β signaling in fibroblasts might not be the main mechanism of CARASIL pathogenesis.