Gene: PFKM
Alternate names for this Gene: ATP-PFK|GSD7|PFK-1|PFK-A|PFK1|PFKA|PFKX|PPP1R122
Gene Summary: Three phosphofructokinase isozymes exist in humans: muscle, liver and platelet. These isozymes function as subunits of the mammalian tetramer phosphofructokinase, which catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-bisphosphate. Tetramer composition varies depending on tissue type. This gene encodes the muscle-type isozyme. Mutations in this gene have been associated with glycogen storage disease type VII, also known as Tarui disease. Alternatively spliced transcript variants have been described.
Gene is located in Chromosome: 12
Location in Chromosome : 12q13.11
Description of this Gene: phosphofructokinase, muscle
Type of Gene: protein-coding
Gene: MIR6505
Alternate names for this Gene: hsa-mir-6505|mir-6505
Gene Summary: microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop.
Gene is located in Chromosome: 12
Location in Chromosome : 12q13.11
Description of this Gene: microRNA 6505
Type of Gene: ncRNA
rs202143236 in
PFKM;MIR6505 gene and
Glycogen Storage Disease Type VII
PMID 8444874 1993 A 5' splice junction mutation leading to exon deletion in an Ashkenazic Jewish family with phosphofructokinase deficiency (Tarui disease).
PMID 8037209 1994 Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency.
PMID 7825568 1995 Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency.
rs202143236 in
PFKM;MIR6505 gene and
Rhabdomyolysis
PMID 28779239 2017 Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases.