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Rabbit Anti-Cyclin M2/FITC Conjugated antibody
background:
Cyclin M2, also known as CNNM2 or ACDP2 (ancient conserved domain-containing protein 2), is an 875 amino acid multi-pass membrane protein that contains two CBS domains and belongs to the ACDP family. Expressed in a variety of tissues with highest expression in placenta, brain and kidney, cyclin M2 functions as a divalent metal cation transporter that mediates the transport of several different metal cations, including Mg2+, Co2+ and Fe2+. Cyclin M2 exists as multiple alternatively spliced isoforms and, contrary to its name, exhibits no cyclin-like function in vivo. The gene encoding cyclin M2 maps to human chromosome 10, which houses over 1,200 genes and comprises nearly 4.5% of the human genome. Defects in some of the genes that map to chromosome 10 are associated with Charcot-Marie Tooth disease, Jackson-Weiss syndrome, Usher syndrome, nonsyndromatic deafness, Wolman’s syndrome, Cowden syndrome, multiple endocrine neoplasia type 2 and porphyria.
Function:
Divalent metal cation transporter. Mediates transport of divalent metal cations in an order of Mg(2+) > Co(2+) > Mn(2+) > Sr(2+) > Ba(2+) > Cu(2+) > Fe(2+
Subcellular Location:
Cell membrane; Multi-pass membrane protein.
Tissue Specificity:
Widely expressed. Expressed at higher level in brain, kidney and placenta, while it is weakly expressed in skeletal muscle. In the kidney, it is expressed in the distal convoluted tubule and the thick ascending limb of Henle loop.
DISEASE:
Defects in CNNM2 are the cause of hypomagnesemia type 6 (HOMG6) [MIM:613882]. A renal disease characterized by severely lowered serum magnesium levels in the absence of other electrolyte disturbances. Affected individuals show an inappropriately normal urinary magnesium excretion, demonstrating a defect in tubular reabsorption. Age of clinical onset is highly variable and some affected individuals are asymptomatic.
Similarity:
Belongs to the ACDP family.
Contains 2 CBS domains.
Contains 1 DUF21 domain.
Database links:
Entrez Gene: 5965 Human
Entrez Gene: 94219 Mouse
Entrez Gene: 294014 Rat
Omim: 607803 Human
SwissProt: Q9H8M5 Human
SwissProt: Q3TWN3 Mouse
SwissProt: Q5U2P1 Rat
Unigene: 643509 Human
Unigene: 657970 Human
Unigene: 306903 Mouse
Unigene: 205139 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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