CDY1B

Chr Y

chromodomain Y-linked 1B

Also known as: CDY

This protein functions as a histone acetyltransferase with preference for histone H4 and contains a chromodomain, playing a role in chromatin remodeling during spermatogenesis where it facilitates the replacement of histones with protamines in developing sperm. CDY1B is located on the Y chromosome and is primarily expressed in male germ cells during spermatid development. No well-established neurological diseases have been associated with CDY1B mutations in the pediatric population.

ResearchSummary from RefSeq, UniProt
Clinical SummaryCDY1B
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ClinVar Variants
30 unique Pathogenic / Likely Pathogenic· 3 VUS of 38 total submissions

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

38 submitted variants in ClinVar

Classification Summary

Pathogenic26
Likely Pathogenic4
VUS3
Likely Benign2
Benign3
26
Pathogenic
4
Likely Pathogenic
3
VUS
2
Likely Benign
3
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
26
Likely Pathogenic
4
VUS
3
Likely Benign
2
Benign
3
Total38

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CDY1B · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC