CRTAC1

Chr 10

cartilage acidic protein 1

Also known as: ASPIC, ASPIC1, CEP-68, LOTUS

This gene encodes a glycosylated extracellular matrix protein that is found in the interterritorial matrix of articular deep zone cartilage. This protein is used as a marker to distinguish chondrocytes from osteoblasts and mesenchymal stem cells in culture. The presence of FG-GAP motifs and an RGD integrin-binding motif suggests that this protein may be involved in cell-cell or cell-matrix interactions. Copy number alterations in this gene have been observed in neurofibromatosis type 1-associated glomus tumors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]

ResearchGenerating clinical summary…
0
Active trials
22
Pubs (1 yr)
P/LP submissions
P/LP missense
0.77
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.77LOEUF
pLI 0.000
Z-score 2.54
OE 0.50 (0.330.77)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.18Z-score
OE missense 0.84 (0.770.92)
374 obs / 444.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.50 (0.330.77)
00.351.4
Missense OE?0.84 (0.770.92)
00.61.4
Synonymous OE?0.96
01.21.6
LoF obs/exp: 15 / 30.0Missense obs/exp: 374 / 444.1Syn Z: 0.42

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CRTAC1 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →