HYCC1
Chr 7ARhyccin PI4KA lipid kinase complex subunit 1
Also known as: DRCTNNB1A, FAM126A, HCC, HLD5
The protein is a component of a complex that localizes phosphatidylinositol 4-kinase to the plasma membrane and regulates phosphatidylinositol 4-phosphate synthesis, playing a key role in oligodendrocyte formation and myelination of the central and peripheral nervous systems. Mutations cause leukodystrophy, hypomyelinating, 5 (also known as hypomyelination with congenital cataract), which follows autosomal recessive inheritance. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.485), and the congenital onset is reflected in the phenotype name.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
436 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 | 6 | 1 | 29 | 0 | 36 |
Likely Pathogenic | 14 | 0 | 2 | 0 | 16 |
VUS | 3 | 119 | 73 | 4 | 199 |
Likely Benign | 0 | 11 | 43 | 67 | 121 |
Benign | 0 | 1 | 35 | 4 | 40 |
Conflicting | — | 13 | |||
| Total | 23 | 132 | 182 | 75 | 425 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
HYCC1 · 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 →No open access results found
External Resources
Links to major genomics databases and tools