POMK Antibody, FITC conjugated

Datasheet

Code	CSB-PA863985LC01HU
Size	US$166
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Product Details
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Target Background

Product Details

Full Product Name

Rabbit anti-Homo sapiens (Human) POMK Polyclonal antibody

Uniprot No.

Q9H5K3

Target Names

POMK

Alternative Names

FLJ23356 antibody; MDDGA12 antibody; POMK antibody; Probable inactive protein kinase-like protein SgK196 antibody; Protein kinase like protein SgK196 antibody; Protein kinase-like protein SgK196 antibody; Protein O-mannose kinase antibody; SG196_HUMAN antibody; SGK196 antibody; Sugen kinase 196 antibody

Raised in

Rabbit

Species Reactivity

Human

Immunogen

Recombinant Human Protein O-mannose kinase protein (44-350AA)

Immunogen Species

Homo sapiens (Human)

Conjugate

FITC

Clonality

Polyclonal

Isotype

IgG

Purification Method

>95%, Protein G purified

Concentration

It differs from different batches. Please contact us to confirm it.

Buffer

Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, PH 7.4

Form

Liquid

Troubleshooting and FAQs

Antibody FAQs

Storage

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.

Lead Time

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

Usage

For Research Use Only. Not for use in diagnostic or therapeutic procedures.

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Target Background

Function

Protein O-mannose kinase that specifically mediates phosphorylation at the 6-position of an O-mannose of the trisaccharide (N-acetylgalactosamine (GalNAc)-beta-1,3-N-acetylglucosamine (GlcNAc)-beta-1,4-mannose) to generate phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-1,3-N-acetylglucosamine-beta-1,4-(phosphate-6-)mannose). Phosphorylated O-mannosyl trisaccharide is a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity. Only shows kinase activity when the GalNAc-beta-3-GlcNAc-beta-terminus is linked to the 4-position of O-mannose, suggesting that this disaccharide serves as the substrate recognition motif.

Gene References into Functions

POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. PMID: 24925318
Homozygous truncating mutations in POMK lead to congenital muscular dystrophies with secondary merosin deficiency, hypomyelination and intellectual disability. PMID: 24556084
These findings suggest how mutations in GTDC2, B3GALNT2, and SGK196 disrupt dystroglycan receptor function and lead to congenital muscular dystrophy. PMID: 23929950

Involvement in disease

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A12 (MDDGA12); Muscular dystrophy-dystroglycanopathy limb-girdle C12 (MDDGC12)

Subcellular Location

Endoplasmic reticulum membrane; Single-pass type II membrane protein.

Protein Families

Protein kinase superfamily, Ser/Thr protein kinase family, STKL subfamily

Tissue Specificity

Highest expression is observed in brain, skeletal muscle, kidney and heart in fetal and adult tissues.

Database Links

HGNC: 26267

OMIM: 615247

KEGG: hsa:84197

STRING: 9606.ENSP00000331258

UniGene: Hs.491646

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Antibody FAQs What Is an Antibody? How to Choose an Antibody for Scientific Research? The difference between primary antibody and secondary antibod The Meaning of Irregular Antibody Screening Tag Antibodies, Your Good Partner in Protein Research How to Choose the Loading Control Antibodies?

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7505 Fannin St., Ste 610, Room 7 (CUBIO Innovation Center), Houston, TX 77054, USA

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