MYMX
protein-codingmyomixer, myoblast fusion factor
Gene summary
Involved in myoblast fusion involved in skeletal muscle regeneration. Predicted to be active in Golgi membrane; endoplasmic reticulum membrane; and plasma membrane. Implicated in Carey-Fineman-Ziter syndrome 2. [provided by Alliance of Genome Resources, Jun 2026]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~1.3 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
Inheritance Pattern: AR
Disease ID:MONDO:0009700
Submitter: PanelApp Australia
Clinical Genomic Database (CGD)
Manifestation: Craniofacial; Musculoskeletal; Neurologic
Intervention: General
Rationale: Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to MYMX variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001315494.2. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 1 | ||||
| missense | 0 | |||||
| nonsense | 2 | 2 | 4 | |||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 2 | 2 | 0 | 1 | 0 | 5 |
Highest pathogenic variant AF is 0.00049388135
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001302423.1 | 1 | MANE Select | |
| Ensembl | ENSP00000490143.1 | 1 | MANE Select | |
| RefSeq | NP_001334860.1 | 1 | Standard | |
| Ensembl | ENSP00000489797.1 | 1 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- myoblast fusion
- plasma membrane fusion
- skeletal muscle organ development
Cellular Component
- Golgi membrane
- endoplasmic reticulum membrane
- plasma membrane
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Myoblast-specific protein that mediates myoblast fusion, an essential step for the formation of multi-nucleated muscle fibers. Probably acts by mediating the mixing of cell membranes. Associates with MYMK to promote myoblast fusion. {ECO:0000250|UniProtKB:Q2Q5T5}.;