Features include very common findings: Ataxia, Postural instability, and Nerve damage affecting sensation and movement (sensorimotor neuropathy); and common findings: Limb ataxia, Distal sensory impairment, and Pectus carinatum. 18 total HPO annotations.

MME encodes membrane metalloendopeptidase (750 aa). Thermolysin-like specificity, but is almost confined on acting on polypeptides of up to 30 amino acids. Highest expression in Cells Cultured fibroblasts (640.5 TPM) and Nerve Tibial (42.9 TPM).

Spinocerebellar ataxia 43 is associated with mutations in the MME gene on chromosome 3.

The MME protein participates in LIG3 ligates remaining SSBs in MMEJ, POLQ extends annealed 3'-ssDNA overhangs in MMEJ, and MRN and RBBP8 resect DNA DSBs in MMEJ pathways.

MME is classified as a druggable target (Cell Surface, Druggable Genome, Enzyme, and Protease categories) with score 4.7.

Genetic testing for MME is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for spinocerebellar ataxia 43 has been reported in the published literature.

Phenotype severity distribution: 3 very common features, 3 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for spinocerebellar ataxia 43.

40 publications have been identified in PubMed for spinocerebellar ataxia 43. Research spans Basic Science / Preclinical (33%), Epidemiology / Natural History (25%), and Review / Meta-Analysis (13%).