Mouse anti-Human EFHC1 Polyclonal Antibody | anti-EFHC1 antibody

EFHC1 (EF-hand Domain-containing Protein 1, Myoclonin-1, FLJ10466, FLJ37290)

Cat. Num. AAA6006923

• Gene Names: EFHC1; dJ304B14.2
• Reactivity: Human
• Applications: Western Blot
• Purity: Affinity Purified; Purified by Protein A affinity chromatography.
• Synonyms: EFHC1; Polyclonal Antibody; EFHC1 (EF-hand Domain-containing Protein 1; Myoclonin-1; FLJ10466; FLJ37290); Anti -EFHC1 (EF-hand Domain-containing Protein 1; anti-EFHC1 antibody

• Host: Mouse
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Specificity: Recognizes human EFHC1.
• Purity/Purification: Affinity Purified; Purified by Protein A affinity chromatography.
• Form/Format: Supplied as a liquid in PBS, pH 7.2.
• Sequence: MVSNPVHGLPFLPGTSFKDSTKTAFHRSQTLSYRNGYAIVRRPTVGIGGDRLQFNQLSQAELDELASKAPVLTYGQPKQAPPADFIPAHVAFDKKVLKFDAYFQEDVPMSTEEQYRIRQVNIYYYLEDDSMSVIEPVVENSGILQGKLIKRQRLAKNDRGDHYHWKDLNRGINITIYGKTFRVVDCDQFTQVFLESQGIELNPPEKMALDPYTELRKQPLRKYVTPSDFDQLKQFLTFDKQVLRFYAIWDDTDSMYGECRTYIIHYYLMDDTVEIREVHERNDGIDPFPLLMNRQRVPKVLVENAKNFPQCVLEISDQEVLEWYTAKDFIVGKSLTILGRTFFIYDCDPFTRRYYKEKFGITDLPRIDVSKREPPPVKQELPPYNGFGLVEDSAQNCFALIPKAPKKDVIKMLVNDNKVLRYLAVLESPIPEDKDRRFVFSYFLATDMISIFEPPVRNSGIIGGKYLGRTKVVKPYSTVDNPVYYGPSDFFIGAVIEVFGHRFIILDTDEYVLKYMESNAAQYSPEALASIQNHVRKREAPAPEAESKQTEKDPGVQELEALIDTIQKQLKDHSCKDNIREAFQIYDKEASGYVDRDMFFKICESLNVPVDDSLVKELLRMCSHGEGKINYYNFVRAFSN

• Applicable Applications for anti-EFHC1 antibody: Western Blot (WB)
• Application Notes: Suitable for use in Western Blot.
• Immunogen: Full length human EFHC1, aa1-640 (AAH20210.1).
• Preparation and Storage: May be stored at 4 degree C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20 degree C. Aliquots are stable for at least 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

Western Blot (WB)

(Western Blot analysis of EFHC1 expression in transfected 293T cell line by EFHC1 polyclonal antibody. Lane 1: EFHC1 transfected lysate (70.4kD). Lane 2: Non-transfected lysate.)

Related Product Information for anti-EFHC1 antibody

EFHC1 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.

Product Categories/Family for anti-EFHC1 antibody

Antibodies; Abs to Calcium Binding Proteins

NCBI and Uniprot Product Information

• NCBI GI #: 156616292
• NCBI GeneID: 114327
• NCBI Accession #: NP_060570.2
• NCBI GenBank Nucleotide #: NM_018100.3
• UniProt Accession #: Q5JVL4; Q5XKM4; Q6E1U7; Q6E1U8; Q8WUL2; Q9NVW6; B4DMU3; F5GZD8
• Molecular Weight: 73,990 Da
• NCBI Official Full Name: EF-hand domain-containing protein 1 isoform 1
• NCBI Official Synonym Full Names: EF-hand domain (C-terminal) containing 1
• NCBI Official Symbol: EFHC1
• NCBI Official Synonym Symbols: dJ304B14.2
• NCBI Protein Information: EF-hand domain-containing protein 1; myoclonin-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: centrosome; cell soma; axoneme

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

Biological Process: cerebral cortex cell migration

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