UFM1

Chr 13

ubiquitin fold modifier 1

Also known as: BM-002, C13orf20, HLD14

NCBI Gene: 51569 ENSG00000120686 UniProt: P61960

UFM1 encodes a ubiquitin-like protein that is covalently attached to target proteins through a process called ufmylation, which is involved in ribosome recycling, DNA damage response, and endoplasmic reticulum stress response. Mutations cause autosomal recessive leukodystrophy, hypomyelinating, 14, a white matter disorder affecting myelination in the central nervous system. The gene shows moderate tolerance to loss-of-function variants (LOEUF 1.035), suggesting some functional redundancy in the ufmylation pathway.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

UFM1 is a ubiquitin-like protein that is conjugated to target proteins by E1-like activating enzyme UBA5 (UBE1DC1; MIM 610552) and E2-like conjugating enzyme UFC1 (MIM 610554) in a manner analogous to ubiquitylation (see UBE2M; MIM 603173) (Komatsu et al., 2004 [PubMed 15071506]).[supplied by OMIM, Dec 2008]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtLeukodystrophy, hypomyelinating, 14

Clinical highlights

Gene-disease validity (ClinGen)

leukodystrophy, hypomyelinating, 14 · 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)

—

P/LP submissions

—

P/LP missense

1.03

LOEUF

LOF

Mechanism· G2P

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GeneReview available — UFM1