Phosphomannomutase 2 Proteins (PMM2)

The protein encoded by PMM2 catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Additionally we are shipping PMM2 Antibodies (62) and many more products for this protein.

list all proteins	Gene Name	GeneID	UniProt
	PMM2	5373	O15305
	PMM2	54128	Q9Z2M7
Rat PMM2	PMM2	302915

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Top PMM2 Proteins at antibodies-online.com

Showing 10 out of 15 products:

Catalog No.	Origin	Source	Conjugate	Quantity	Supplier	Delivery	Price	Details
ABIN3086233	Insect Cells	Human	His tag	1 mg	Log in to see	50 Days	$5,960.83	Details
ABIN3120400	Insect Cells	Mouse	His tag	1 mg	Log in to see	50 Days	$5,960.83	Details
ABIN1097361	Escherichia coli (E. coli)	Human	His tag	50 μg	Log in to see	4 Days	$522.50	Details
ABIN2006316	Escherichia coli (E. coli)	Human	His tag	100 μg	Log in to see	20 to 21 Days	$382.80	Details
ABIN2729214	Escherichia coli (E. coli)	Human	His tag	10 μg	Log in to see	12 to 15 Days	$504.74	Details
ABIN1315522	Wheat germ	Human	GST tag	10 μg	Log in to see	11 to 12 Days	$414.29	Details
ABIN2729213	HEK-293 Cells	Human	Myc-DYKDDDDK Tag	20 μg	Log in to see	10 to 12 Days	$554.07	Details
ABIN1612189	Yeast	Cynomolgus	His tag	1 mg	Log in to see	60 to 71 Days	$2,625.33	Details
ABIN1616513	Yeast	Cow	His tag	1 mg	Log in to see	60 to 71 Days	$2,625.33	Details
ABIN805233	Escherichia coli (E. coli)	Human	His tag	1 mg	Log in to see	2 to 3 Days	$3,035.21	Details

PMM2 Proteins by Origin and Source

Origin	Expressed in	Conjugate
Human	, , ,	, ,
Mouse (Murine)

More product categories related to PMM2 Protein

More Proteins for Phosphomannomutase 2 (PMM2) Interaction Partners

Zebrafish Phosphomannomutase 2 (PMM2) interaction partners

Morphant embryos had developmental abnormalities consistent with Congenital disorder of glycosylation resulting from mutations in pmm2, including craniofacial defects and impaired motility associated with altered motor neurogenesis.

Xenopus laevis Phosphomannomutase 2 (PMM2) interaction partners

The data show for the first time that a knockdown of phosphomannomutase 2 influences in vivo the non-canonical Wnt (show WNT2 Proteins) signalling during early embryogenesis.

Human Phosphomannomutase 2 (PMM2) interaction partners

Four patients were diagnosed with PMM2-CDG at the age of 8 years or later as their neurological symptoms were quite mild and they had been able to participate in regular school programs. We report patients with p.Val231Met/p.Arg239Trp and p.Ile120Thr/p.Gly228Cys genotypes which may cause milder variants of PMM2-CDG
This functional mouse model of PMM2-CDG, in vitro assays and identification of the novel gp130 biomarker all shed light on the human disease, and moreover, provide the essential tools to test potential therapeutics for this untreatable disease.
We propose that the PMM2 promoter mutation alters tissue-specific chromatin loop formation, with consequent organ-specific deficiency of PMM2 leading to the restricted phenotype of HIPKD. Our findings extend the spectrum of genetic causes for both HI and PKD (show PRKD1 Proteins) and provide insights into gene regulation and PMM2 pleiotropy
work describes the functional analysis of 9 PMM2 mutant proteins frequently found in congenital disorder of glycosylation type Ia(PMM2-CDG)patients; results suggest that some loss-of-function mutations detected in PMM2-CDG patients could be destabilizing
A mild neurological phenotype of PMM2-CDG marked by preserved ambulatory ability and autonomy and associated with L32R mutation is particularly frequent in Italy.
Data indicate genome-wide significant association at multiple single nucleotide polymorphism (SNPs) near ATP binding cassette transporter 1 (ABCA1 (show ABCA1 Proteins)) at 9q31.1 and suggestive evidence of association in phosphomannomutase 2 (PMM2) at 16p13.2.
We conclude that electroretinogram signs of on-pathway dysfunction can be detected in the early stages of PMM2-Congenital disorder of glycosylation.
Hypertrophic cardiomyopathy with cardiac rupture and tamponade caused by congenital disorder of glycosylation type Ia with PMM2 mutations in two siblings.
The presence of this deletion-insertion mutation at cDNA position 565 suggests that this site in the PMM2 gene may be a hotspot for chromosomal breakage.
A Japanese patient with congenital disorder of glycosylation type Ia had a novel nonsense mutation (R194X) in the PMM2 gene.

Mouse (Murine) Phosphomannomutase 2 (PMM2) interaction partners

This functional mouse model of PMM2-CDG, in vitro assays and identification of the novel gp130 biomarker all shed light on the human disease, and moreover, provide the essential tools to test potential therapeutics for this untreatable disease.
Pmm2 activity in jejunum increased during the early stages of life, and it decreased at 1 month old, as does the amount of mannose incorporated into glycoproteins, whereas in the ileum, they were not affected by age.
Pmm2 immunoreactivity seen in prenatal brain until postnatal and adult stage and restricted in neuronal cell bodies.
These results indicate that Pmm2 is essential for early development of mice.

PMM2 Protein Profile

Protein Summary

The protein encoded by this gene catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in this gene have been shown to cause defects in glycoprotein biosynthesis, which manifests as carbohydrate-deficient glycoprotein syndrome type I.

Gene names and symbols associated with Phosphomannomutase 2 Proteins (PMM2)

phosphomannomutase 2 (pmm2)
phosphomannomutase 2 (PMM2)
phosphomannomutase 2 S homeolog (pmm2.S)
phosphomannomutase 2 (PTRG_02815)
phosphomannomutase 2 (Tsp_00480)
phosphomannomutase 2 (Pmm2)

AI585868 protein
C86848 protein
cb626 protein
CDG1 protein
CDG1a protein
CDGS protein
MGC82869 protein
PMI protein
PMI1 protein
PMM 2 protein
pmm2 protein
zgc:56149 protein

Protein level used designations for Phosphomannomutase 2 Proteins (PMM2)

phosphomannomutase 2 , phosphomannose isomerase 1 , PMM 2

GENE ID	SPECIES
368229	Danio rerio
427679	Gallus gallus
444370	Xenopus laevis
6341038	Pyrenophora tritici-repentis Pt-1C-BFP
10901767	Trichinella spiralis
100196649	Salmo salar
100216238	Xenopus (Silurana) tropicalis
100528607	Ictalurus punctatus
5373	Homo sapiens
54128	Mus musculus
302915	Rattus norvegicus
510978	Bos taurus

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