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DOK7 docking protein 7 [Homo sapiens (human)]


RefSeq Accession Definition Services Price Order
NM_001164673 Homo sapiens docking protein 7 (DOK7), transcript variant 2, mRNA. ORF Sequence $222.72
Peptide Services
Antibody Services
Protein Services
NM_001256896 Homo sapiens docking protein 7 (DOK7), transcript variant 3, mRNA. ORF Sequence $169.65
Peptide Services
Antibody Services
Protein Services
NM_173660 Homo sapiens docking protein 7 (DOK7), transcript variant 1, mRNA. ORF Sequence $439.35
Peptide Services
Antibody Services
Protein Services


Gene Symbol DOK7
Entrez Gene ID 285489
Full Name docking protein 7
Synonyms C4orf25, CMS1B, FLJ33718, FLJ39137, FLJ90556
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

4

4p16.3

Summary The protein encoded by this gene is essential for neuromuscular synaptogenesis. The protein functions in aneural activation of muscle-specific receptor kinase, which is required for postsynaptic differentiation, and in the subsequent clustering of the acetylcholine receptor in myotubes. This protein can also induce autophosphorylation of muscle-specific receptor kinase. Mutations in this gene are a cause of familial limb-girdle myasthenia autosomal recessive, which is also known as congenital myasthenic syndrome type 1B. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009].
Disorder

MIM: 610285

Myasthenia, limb-girdle, familial, 254300 (3); Fetal akinesia

mRNA Protein Product Sequence Price Select
NM_001164673, 257467679 NP_001158145, 257467680 protein Dok-7 isoform 2 Full Length $745.88
ORF Sequence $222.72
NM_001256896, 379317166 NP_001243825, 379317167 protein Dok-7 isoform 3 Full Length $661.49
ORF Sequence $169.65
NM_173660, 257467678 NP_775931, 111185957 protein Dok-7 isoform 1 Full Length $749.07
ORF Sequence $439.35
Homo sapiens (human)DOK7NP_775931.3
Pan troglodytes (chimpanzee)DOK7XP_001174613.2
Canis lupus familiaris (dog)DOK7XP_545912.3
Mus musculus (house mouse)Dok7NP_766296.1
Rattus norvegicus (Norway rat)Dok7NP_001123534.1
Gallus gallus (chicken)DOK7XP_420818.3
Danio rerio (zebrafish)dok7XP_686127.4
GeneCards DOK7
UniProt Q8N1M3, Q18PE1, E9PB56
MIM 610285
Ensembl ENSG00000175920
HGNC 26594
HPRD 08744

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
protein Dok-7
Names
protein Dok-7
downstream of tyrosine kinase 7

Interactant

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