Phosphofructokinase muscle (PFKM) is a subunit of the mammalian tetramer phosphofructokinase. It is encoded by the gene mapped to human chromosome 12q13.1. PFKM is expressed in muscle, red blood cells, thyroid and brain.

The PFKM gene encodes the muscle isoform of phosphofructokinase (PFK) (ATP:D-fructose-6-phosphate-1-phosphotransferase, EC 2.7.1.11). PFK catalyzes the irreversible conversion of fructose-6-phosphate to fructose-1,6-bisphosphate and is a key regulatory enzyme in glycolysis. Mammalian PFK is a tetramer made up of various combinations of 3 subunits: muscle (PFKM), liver (PFKL; MIM 171860), and platelet (PFKP; MIM 171840), the genes for which are located on chromosomes 12q13, 21q22, and 10p, respectively. The composition of the tetramers differs according to the tissue type. Muscle and liver PFK are a homotetramers of 4M and 4L subunits, respectively. Erythrocytes contain both L and M subunits, which randomly tetramerize to form M4, L4, and M3L, M2L2, and ML3 hybrid forms of the holoenzyme (Vora et al., 1980 [PubMed 6444721]; Raben and Sherman, 1995 [PubMed 7550225]).[supplied by OMIM

PFKM (NP_000280.1, 1 a.a. ~ 780 a.a) full-length human protein.

Sequence
MTHEEHHAAKTLGIGKAIAVLTSGGDAQGMNAAVRAVVRVGIFTGARVFFVHEGYQGLVDGGDHIKEATWESVSMMLQLGGTVIGSARCKDFREREGRLRAAYNLVKRGITNLCVIGGDGSLTGADTFRSEWSDLLSDLQKAGKITDEEATKSSYLNIVGLVGSIDNDFCGTDMTIGTDSALHRIMEIVDAITTTAQSHQRTFVLEVMGRHCGYLALVTSLSCGADWVFIPECPPDDDWEEHLCRRLSETRTRGSRLNIIIVAEGAIDKNGKPITSEDIKNLVVKRLGYDTRVTVLGHVQRGGTPSAFDRILGSRMGVEAVMALLEGTPDTPACVVSLSGNQAVRLPLMECVQVTKDVTKAMDEKKFDEALKLRGRSFMNNWEVYKLLAHVRPPVSKSGSHTVAVMNVGAPAAGMNAAVRSTVRIGLIQGNRVLVVHDGFEGLAKGQIEEAGWSYVGGWTGQGGSKLGTKRTLPKKSFEQISANITKFNIQGLVIIGGFEAYTGGLELMEGRKQFDELCIPFVVIPATVSNNVPGSDFSVGADTALNTICTTCDRIKQSAAGTKRRVFIIETMGGYCGYLATMAGLAAGADAAYIFEEPFTIRDLQANVEHLVQKMKTTVKRGLVLRNEKCNENYTTDFIFNLYSEEGKGIFDSRKNVLGHMQQGGSPTPFDRNFATKMGAKAMNWMSGKIKESYRNGRIFANTPDSGCVLGMRKRALVFQPVAELKDQTDFEHRIPKEQWWLKLRPILKILAKYEIDLDTSDHAHLEHITRKRSGEAAV

Phosphofructokinase muscle (PFKM) functions as a rate-limiting enzyme in glycolysis. Aberrations in the gene expression cause Tarui disease and might also lead to non-insulin-dependent diabetes mellitus (NIDDM). Mutation of the gene might also increases the risk of susceptibility to breast cancer.

Solution in phosphate buffered saline, pH 7.4

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