CALML5
Chr 10calmodulin like 5
Also known as: CLSP
This gene encodes a calcium-binding protein that is specifically expressed in differentiating keratinocytes and associates with transglutaminase 3, a key enzyme in terminal keratinocyte differentiation. Mutations cause autosomal recessive congenital ichthyosis, a skin disorder affecting the epidermis. The condition primarily involves the integumentary system with characteristic scaling and thickening of the skin.
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Population Genetics & Constraint
Constraint data not available from gnomAD.
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
58 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 23 | 0 | 23 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 17 | 11 | 0 | 28 |
Likely Benign | 0 | 2 | 1 | 0 | 3 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 0 | 19 | 38 | 0 | 57 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CALML5 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools