Neuroscience
Anti-COLQ Antibody (CAB10448)
- SKU:
- CAB10448
- Product Type:
- Antibody
- Reactivity:
- Mouse
- Reactivity:
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Neuroscience
Description
Antibody Name: | Anti-COLQ Antibody |
Antibody SKU: | CAB10448 |
Antibody Size: | 20uL, 50uL, 100uL |
Application: | WB |
Reactivity: | Mouse, Rat |
Host Species: | Rabbit |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 276-455 of human COLQ (NP_005668.2). |
Application: | WB |
Recommended Dilution: | WB 1:500 - 1:2000 |
Reactivity: | Mouse, Rat |
Positive Samples: | Mouse skeletal muscle, Mouse lung, Rat skeletal muscle, Rat heart, Rat testis |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 276-455 of human COLQ (NP_005668.2). |
Purification Method: | Affinity purification |
Storage Buffer: | Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
Isotype: | IgG |
Sequence: | MGPK GERG FPGP PGRC LCGP TMNV NNPS YGES VYGP SSPR VPVI FVVN NQEE LERL NTQN AIAF RRDQ RSLY FKDS LGWL PIQL TPFY PVDY TADQ HGTC GDGL LQPG EECD DGNS DVGD DCIR CHRA YCGD GHRH EGVE DCDG SDFG YLTC ETYL PGSY GDLQ CTQY CYID STPC RYFT |
Gene ID: | 8292 |
Uniprot: | Q9Y215 |
Cellular Location: | Cell junction, synapse |
Calculated MW: | 28kDa/30kDa/33kDa/44kDa/46kDa/47kDa |
Observed MW: | 48kDa |
Synonyms: | COLQ, CMS5, EAD |
Background: | This gene encodes the subunit of a collagen-like molecule associated with acetylcholinesterase in skeletal muscle. Each molecule is composed of three identical subunits. Each subunit contains a proline-rich attachment domain (PRAD) that binds an acetylcholinesterase tetramer to anchor the catalytic subunit of the enzyme to the basal lamina. Mutations in this gene are associated with endplate acetylcholinesterase deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. |
UniProt Protein Function: | COLQ: Anchors the catalytic subunits of asymmetric AChE to the synaptic basal lamina. Defects in COLQ are the cause of congenital myasthenic syndrome Engel type (CMSE); also known as end-plate acetylcholinesterase deficiency or congenital myasthenic syndrome type IC (CMS-IC). CMSE is a rare autosomal recessive congenital myasthenic syndrome characterized by onset during childhood, generalized weakness, abnormal fatigability on exertion, refrectoriness to acetylcholinesterase drugs, decremental electromyographic response and morphological abnormalities of the neuromuscular junctions. Belongs to the COLQ family. 8 isoforms of the human protein are produced by alternative splicing. |
UniProt Protein Details: | Protein type:Extracellular matrix Chromosomal Location of Human Ortholog: 3p25 Cellular Component: extracellular space; collagen; synapse; basal lamina; cell junction Molecular Function:protein binding Biological Process: asymmetric protein localization; acetylcholine catabolic process in synaptic cleft Disease: Endplate Acetylcholinesterase Deficiency |
NCBI Summary: | This gene encodes the subunit of a collagen-like molecule associated with acetylcholinesterase in skeletal muscle. Each molecule is composed of three identical subunits. Each subunit contains a proline-rich attachment domain (PRAD) that binds an acetylcholinesterase tetramer to anchor the catalytic subunit of the enzyme to the basal lamina. Mutations in this gene are associated with endplate acetylcholinesterase deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
UniProt Code: | Q9Y215 |
NCBI GenInfo Identifier: | 18105016 |
NCBI Gene ID: | 8292 |
NCBI Accession: | NP_005668.2 |
UniProt Related Accession: | Q9Y215 |
Molecular Weight: | |
NCBI Full Name: | acetylcholinesterase collagenic tail peptide isoform I |
NCBI Synonym Full Names: | collagen like tail subunit of asymmetric acetylcholinesterase |
NCBI Official Symbol: | COLQ |
NCBI Official Synonym Symbols: | EAD; CMS5 |
NCBI Protein Information: | acetylcholinesterase collagenic tail peptide |
UniProt Protein Name: | Acetylcholinesterase collagenic tail peptide |
UniProt Synonym Protein Names: | AChE Q subunit; Acetylcholinesterase-associated collagen |
UniProt Gene Name: | COLQ |
UniProt Entry Name: | COLQ_HUMAN |
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