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EFHC1 EF-hand domain (C-terminal) containing 1 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001172420 Homo sapiens EF-hand domain (C-terminal) containing 1 (EFHC1), transcript variant C, mRNA. GenEZ ORF Cloning On-demand $849.00 20
NM_018100 Homo sapiens EF-hand domain (C-terminal) containing 1 (EFHC1), transcript variant A, mRNA. GenEZ ORF Cloning On-demand $849.00 20

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Gene Symbol EFHC1
Entrez Gene ID 114327
Full Name EF-hand domain (C-terminal) containing 1
Synonyms FLJ10466, FLJ37290, dJ304B14.2
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

6

6p12.3

Summary This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010].
Disorder

MIM: 608815

{Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 (3);

mRNA Protein Product Sequence Price Select
NM_001172420, 289063385 NP_001165891, 289063386 EF-hand domain-containing protein 1 isoform 2 ORF Sequence $700.00
NM_018100, 156616291 NP_060570, 156616292 EF-hand domain-containing protein 1 isoform 1 ORF Sequence $700.00
Homo sapiens (human)EFHC1NP_060570.2
Pan troglodytes (chimpanzee)EFHC1XP_001152433.1
Macaca mulatta (Rhesus monkey)EFHC1XP_001107470.1
Canis lupus familiaris (dog)EFHC1XP_532170.3
Bos taurus (cattle)EFHC1NP_001179173.1
Mus musculus (house mouse)Efhc1NP_082250.1
Rattus norvegicus (Norway rat)Efhc1NP_001116419.2
Gallus gallus (chicken)EFHC1XP_420047.2
Danio rerio (zebrafish)efhc1NP_957261.1
GeneCards EFHC1
UniProt B2CKC5, Q5JVL4
MIM 608815
Ensembl ENSG00000096093
HGNC 16406
HPRD 10583

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

General protein information

Preferred Names
EF-hand domain-containing protein 1
Names
EF-hand domain-containing protein 1
myoclonin-1

Interactant



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