HTRA1

Chr 10

HtrA serine peptidase 1

Also known as: ARMD7, CADASIL2, CARASIL, CARASIL2, HtrA, L56, ORF480, PRSS11

NCBI Gene: 5654ENSG00000166033UniProt: Q92743

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]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 2
UniProtCerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 2
1
Active trials
118
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.75
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — HTRA1
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.75LOEUF
pLI 0.000
Z-score 2.41
OE 0.43 (0.26–0.75)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.05Z-score
OE missense 0.81 (0.72–0.91)
195 obs / 241.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.43 (0.26–0.75)
0≤0.351.4
Missense OE?0.81 (0.72–0.91)
0≤0.61.4
Synonymous OE?1.06
0≤1.21.6
LoF obs/exp: 9 / 20.9Missense obs/exp: 195 / 241.1Syn Z: -0.51

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

HTRA1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients