MYL3

myosin light chain 3

4 disorders 2 causative 1 unknown 1 untyped 3p21.31 gene with protein product

HGNC:7584 Monarch NCBI Gene 4634 ENSG00000160808 UniProt P08590 OMIM 160790

Aliases: CMH8, VLC1, MLC1V, MLC1SB.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
arrhythmogenic right ventricular cardiomyopathy	unknown germline
Hypertrophic Cardiomyopathy 8	causative	mechanism: MYL3 Essential Light Chain Variant — Altered Lever-Arm and Actin Contact
Restrictive Cardiomyopathy	causative	mechanism: Sarcomeric or Cytoskeletal Variant with Increased Myofilament Tension
Hypertrophic Cardiomyopathy	untyped Pathogenic Variants	mechanism: Sarcomere Protein Mutations

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
dilated cardiomyopathy MONDO:0005021	AD	Disputed 2025-05-30	Dilated Cardiomyopathy not named
hypertrophic cardiomyopathy MONDO:0005045	AD	Definitive 2021-06-07	Hypertrophic Cardiomyopathy untyped
arrhythmogenic right ventricular cardiomyopathy MONDO:0016587	AD	Limited 2019-09-13	arrhythmogenic right ventricular cardiomyopathy unknown

Mechanism modules · computed from kb/

cardiomyopathy_maladaptive_remodeling via Hypertrophic Cardiomyopathy 8, Restrictive Cardiomyopathy

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.