PGM5 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | PGM5 , PGMRP, phosphoglucomutase 5 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 600981 MGI: 1925668 HomoloGene: 74881 GeneCards: PGM5 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Phosphoglucomutase-like protein 5 is an enzyme that in humans is encoded by the PGM5 gene. [4] [5] [6]
Aldolase A, also known as fructose-bisphosphate aldolase, is an enzyme that in humans is encoded by the ALDOA gene on chromosome 16.
Utrophin is a protein that in humans is encoded by the UTRN gene. The name is a short form for ubiquitous dystrophin.
Cathepsin A is an enzyme that is classified both as a cathepsin and a carboxypeptidase. In humans, it is encoded by the CTSA gene.
DNA replication licensing factor MCM7 is a protein that in humans is encoded by the MCM7 gene.
Calcitonin receptor-like (CALCRL), also known as the calcitonin receptor-like receptor (CRLR), is a human protein; it is a receptor for calcitonin gene-related peptide.
Collagen alpha-1(VI) chain is a protein that in humans is encoded by the COL6A1 gene.
Dopachrome tautomerase , also known as DCT, is a human gene. Its expression is regulated by the microphthalmia-associated transcription factor (MITF).
Alpha-1-syntrophin is a protein that in humans is encoded by the SNTA1 gene. Alpha-1 syntrophin is a signal transducing adaptor protein and serves as a scaffold for various signaling molecules. Alpha-1 syntrophin contains a PDZ domain, two Pleckstrin homology domain and a 'syntrophin unique' domain.
Beta-sarcoglycan is a protein that in humans is encoded by the SGCB gene.
Phosphoglucomutase-1 is an enzyme that in humans is encoded by the PGM1 gene. The protein encoded by this gene is an isozyme of phosphoglucomutase (PGM) and belongs to the phosphohexose mutase family. There are several PGM isozymes, which are encoded by different genes and catalyze the transfer of phosphate between the 1 and 6 positions of glucose. In most cell types, this PGM isozyme is predominant, representing about 90% of total PGM activity. In red blood cells, PGM2 is a major isozyme. This gene is highly polymorphic. Mutations in this gene cause CDG syndrome type 1t. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Mar 2010]
Sorbitol dehydrogenase is an enzyme that in humans is encoded by the SORD gene.
Phosphorylase b kinase regulatory subunit beta is an enzyme that in humans is encoded by the PHKB gene.
Acetylcholine receptor subunit gamma is a protein that in humans is encoded by the CHRNG gene.
Collagen alpha-1(XVI) chain is a protein that in humans is encoded by the COL16A1 gene.
Serine/threonine-protein kinase PCTAIRE-2 is an enzyme that in humans is encoded by the PCTK2 gene.
Mitogen-activated protein kinase kinase kinase 9 is an enzyme that in humans is encoded by the MAP3K9 gene.
Myosin-8 is a protein that in humans is encoded by the MYH8 gene.
Talin-1 is a protein that in humans is encoded by the TLN1 gene. Talin-1 is ubiquitously expressed, and is localized to costamere structures in cardiac and skeletal muscle cells, and to focal adhesions in smooth muscle and non-muscle cells. Talin-1 functions to mediate cell-cell adhesion via the linkage of integrins to the actin cytoskeleton and in the activation of integrins. Altered expression of talin-1 has been observed in patients with heart failure, however no mutations in TLN1 have been linked with specific diseases.
Mitogen-activated protein kinase kinase kinase 13 is an enzyme that in humans is encoded by the MAP3K13 gene.
Matrix metalloproteinase 15 also known as MMP15 is an enzyme that in humans is encoded by the MMP15 gene.