HYCC1

Chr 7

hyccin PI4KA lipid kinase complex subunit 1

Also known as: DRCTNNB1A, FAM126A, HCC, HLD5

NCBI Gene: 84668 ENSG00000122591 UniProt: Q9BYI3

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.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene may play a part in the beta-catenin/Lef signaling pathway. Expression of this gene is down-regulated by beta-catenin. Defects in this gene are a cause of hypomyelination with congenital cataract (HCC). [provided by RefSeq, Oct 2008]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtLeukodystrophy, hypomyelinating, 5

Clinical highlights

Gene-disease validity (ClinGen)

hypomyelinating leukodystrophy 5 · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.48

LOEUF

LOF

Mechanism· G2P

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GeneReview available — HYCC1