SRPX Chromosome X
Sushi repeat containing protein X-linked
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What This Gene Does
Predicted to be an extracellular matrix structural constituent. Predicted to be involved in phagolysosome assembly. Predicted to act upstream of or within several processes, including negative regulation of cell proliferation involved in contact inhibition; positive regulation of extrinsic apoptotic signaling pathway in absence of ligand; and response to endoplasmic reticulum stress. Located in collagen-containing extracellular matrix. [provided by Alliance of Genome Resources, Apr 2025]
Gene Info
Gene Group
Sushi domain containing
Locus Type
gene with protein product
Location
Xp11.4
Ensembl
ENSG00000101955
Associated Conditions (1)
Short stature
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS369046467 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS750284952 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS756386867 | Health Risk | Likely pathogenic | Short stature, Short stature |