Gene: ATP5MF

Alternate names for this Gene: ATP5J2|ATP5JL

Gene Summary: Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The catalytic portion of mitochondrial ATP synthase consists of five different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and single representatives of the gamma, delta, and epsilon subunits. The proton channel likely has nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the f subunit of the Fo complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. This gene has multiple pseudogenes. Naturally occurring read-through transcription also exists between this gene and the downstream pentatricopeptide repeat domain 1 (PTCD1) gene.

Gene is located in Chromosome: 7

Location in Chromosome : 7q22.1

Description of this Gene: ATP synthase membrane subunit f

Type of Gene: protein-coding

Gene: ATP5MF-PTCD1

Alternate names for this Gene: ATP5J2-PTCD1

Gene Summary: This locus represents naturally occurring read-through transcription between the ATP5J2 (ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2) and PTCD1 (pentatricopeptide repeat domain 1) genes on chromosome 7. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product.

Gene is located in Chromosome: 7

Location in Chromosome : 7q22.1

Description of this Gene: ATP5MF-PTCD1 readthrough

Type of Gene: protein-coding

Gene: PTCD1

Alternate names for this Gene: -

Gene Summary: This gene encodes a mitochondrial protein that binds leucine tRNAs and other mitochondrial RNAs and plays a role in the regulation of translation. Increased expression of this gene results in decreased mitochondrial leucine tRNA levels. Naturally occurring read-through transcription exists between upstream ATP5J2 (ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2) and this gene.

Gene is located in Chromosome: 7

Location in Chromosome : 7q22.1

Description of this Gene: pentatricopeptide repeat domain 1

Type of Gene: protein-coding

rs2293256 in ATP5MF;ATP5MF-PTCD1;PTCD1 gene and Mucocutaneous Lymph Node Syndrome PMID 23677057 2013 Identification of KCNN2 as a susceptibility locus for coronary artery aneurysms in Kawasaki disease using genome-wide association analysis.