Rabbit EFHC1 Polyclonal Antibody | anti-EFHC1 antibody

EFHC1 Rabbit Polyclonal

Cat. Num. AAA768891

• Gene Names: EFHC1; EJM1; dJ304B14.2
• Reactivity: Human, Mouse, Rat
• Applications: ELISA, Western Blot
• Purity: >=95% as determined by SDS-PAGE; Immunogen Affinity Purified
• Synonyms: EFHC1; Polyclonal Antibody; EFHC1 Rabbit Polyclonal; anti-EFHC1 antibody

• Host: Rabbit
• Reactivity: Human, Mouse, Rat
• Clonality: Polyclonal
• Isotype: IgG
• Purity/Purification: >=95% as determined by SDS-PAGE; Immunogen Affinity Purified
• Form/Format: Liquid
• Sequence Length: 621

• Applicable Applications for anti-EFHC1 antibody: ELISA (EIA), Western Blot (WB)
• Immunogen: EF-hand domain (C-terminal) containing 1
• Preparation and Storage: PBS with 0.02% sodium azide and 50% glycerol pH 7.3, -20 degree C for 24 months (Avoid repeated freeze / thaw cycles.)

Immunohistochemistry (IHC)

(Immunohistochemistry of paraffin-embedded rat brain using MBS768891 (EFHC1 antibody) at dilution of 1:100)

Western Blot (WB)

(mouse brain tissue were subjected to SDS PAGE followed by western blot with MBS768891 (EFHC1 antibody) at dilution of 1:1000)

NCBI and Uniprot Product Information

• NCBI GI #: 289063386
• NCBI GeneID: 114327
• NCBI Accession #: NP_001165891.1
• NCBI GenBank Nucleotide #: NM_001172420.1
• Molecular Weight: 72,021 Da
• NCBI Official Full Name: EF-hand domain-containing protein 1 isoform 2
• NCBI Official Synonym Full Names: EF-hand domain containing 1
• NCBI Official Symbol: EFHC1
• NCBI Official Synonym Symbols: EJM1; dJ304B14.2
• NCBI Protein Information: EF-hand domain-containing protein 1
• UniProt Protein Name: EF-hand domain-containing protein 1
• Protein Family: EF-hand domain-containing protein
• UniProt Gene Name: EFHC1
• UniProt Entry Name: EFHC1_HUMAN

NCBI Description

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]

Uniprot Description

EFHC1: microtubule-associated protein (MAP) that is abundant in sperm flagella and motile cilia but expressed at low levels in the adult brain. It is not present in immotile primary cilia. May enhance calcium influx through CACNA1E and stimulate programmed cell death. Interacts with the C-terminus of CACNA1E. Implicated in neuronal migration and may play a role during brain development. Mutations in EFHC1 gene have been previously reported in patients with epilepsies, including those with juvenile myoclonic epilepsy. Two alternatively spliced human isoforms have been described.

Chromosomal Location of Human Ortholog: 6p12.3

Cellular Component: axoneme; cell soma; centrosome; cytoplasm

Molecular Function: calcium ion binding; protein binding; protein C-terminus binding

Biological Process: cerebral cortex cell migration

Disease: Epilepsy, Juvenile Absence, Susceptibility To, 1; Epilepsy, Myoclonic Juvenile