MFF mitochondrial fission factor

Gene ID: 56947, updated on 10-Oct-2024
Gene type: protein coding
Also known as: EMPF2; GL004; C2orf33

Summary

This is a nuclear gene encoding a protein that functions in mitochondrial and peroxisomal fission. The encoded protein recruits dynamin-1-like protein (DNM1L) to mitochondria. There are multiple pseudogenes for this gene on chromosomes 1, 5, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Encephalopathy due to defective mitochondrial and peroxisomal fission 2 MedGen: C4310726OMIM: 617086GeneReviews: Not available	See labs

Genomic context

Location:: 2q36.3

Sequence:: Chromosome: 2; NC_000002.12 (227325251..227357836)

Total number of exons:: 13

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for MFF variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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