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EFHC1

EFHC1

Protein-coding gene in the species Homo sapiens

protein 1 is a protein that in humans is encoded by the EFHC1 gene. Not all variants of EFHC1 are pathogenic. GRCh38: Ensembl release 89: ENSG00000096093

EFHC1

Juvenile myoclonic epilepsy

Medical condition causing seizures

cell-cycle exit and radial neuroblast migration, as well as apoptosis. EFHC1 has similar functions and is also associated with JME. These findings may

Juvenile myoclonic epilepsy

Juvenile_myoclonic_epilepsy

Marco Tulio Medina

Honduran neurologist

Angeles, and has co-discovered several genes related to epilepsy, including EFHC1 and GABRB3. He became the regional director for Latin America of the World

Marco Tulio Medina

Marco_Tulio_Medina

Genetics of synesthesia

neuronal growth, migration, and axon guidance during early brain development. EFHC1: Plays a role in apoptosis (programmed cell death). Its involvement suggests

Genetics of synesthesia

Genetics_of_synesthesia

Idiopathic generalized epilepsy

Medical condition

has been shown to mutations in the genes GABRA1, CACNB4, CLCN2, GABRD2, EFHC1, and EFHC2. This type of IGE can present at almost any age and is poorly

Idiopathic generalized epilepsy

Idiopathic_generalized_epilepsy

EF hand

Protein helix–loop–helix motif

EFCAB1; EFCAB2; EFCAB4A; EFCAB4B; EFCAB6; EFCBP1; EFCBP2; EFHA1; EFHA2; EFHB; EFHC1; EFHD1; EFHD2; EPS15; EPS15L1 FKBP10; FKBP14; FKBP7; FKBP9; FKBP9L; FREQ;

EF hand

EF_hand

EFHC2

Protein-coding gene in humans

central nervous system as well as peripheral tissues. A related protein, EFHC1 is encoded by a gene on chromosome 6. It has been suggested that both proteins

EFHC2

List of human protein-coding genes 3

Q12805 4757 EFEMP2 HGNC:3219; O95967 4758 EFHB HGNC:26330; Q8N7U6 4759 EFHC1 HGNC:16406; Q5JVL4 4760 EFHC2 HGNC:26233; Q5JST6 4761 EFHD1 HGNC:29556;

List of human protein-coding genes 3

List_of_human_protein-coding_genes_3

R-type calcium channel

Protein family

Osawa M, Kaneko S, Oguni H, Mori Y, Yamakawa K (August 2004). "Mutations in EFHC1 cause juvenile myoclonic epilepsy". Nature Genetics. 36 (8): 842–9. doi:10

R-type calcium channel

R-type_calcium_channel

COA7

Protein-coding gene in the species Homo sapiens

interactions including 16 co-complex interactions. COA7 appears to interact with EFHC1, SNRPB, SUOX, AES, ENKD1, and GPSM3. GRCh38: Ensembl release 89: ENSG00000162377

COA7