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MTP18 is a mitochondrial protein and downstream target of the phosphatidylinositol 3-kinase (see PIK3CA, MIM 171834) signaling pathway that plays a role in cell viability and mitochondrial dynamics (Tondera et al., 2004 [PubMed 15155745]).[supplied by OMIM, Mar 2008]
MTFP1 (Mitochondrial Fission Process 1) is a Protein Coding gene. Diseases associated with MTFP1 include Corneal Dystrophy And Perceptive Deafness and Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IBA | 21873635 |
GO:0005743 | mitochondrial inner membrane | IEA,IDA | 15985469 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000266 | mitochondrial fission | IBA,IMP | 15985469 |
GO:0006915 | apoptotic process | IEA | -- |
GO:0007005 | mitochondrion organization | IEA | -- |
GO:0014850 | response to muscle activity | IEA | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MTFP1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MTP18 31 |
|
OneToOne | |
MTFP1 30 |
|
||||
Mouse (Mus musculus) |
Mammalia | Mtfp1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mtfp1 30 |
|
||
Dog (Canis familiaris) |
Mammalia | MTFP1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | MTFP1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MTFP1 30 |
|
||
Lizard (Anolis carolinensis) |
Reptilia | MTFP1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mtfp1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | mtfp1 30 |
|
||
MTFP1 31 |
|
OneToOne | |||
zgc63910 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.4958 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG7772 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001603 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | mtp-18 30 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
719271 | Benign: not provided | 30,427,161(+) | C/T | INTRON_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
corneal dystrophy and perceptive deafness |
|
|
optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy |
|
|
3-methylglutaconic aciduria, type iii |
|
|