Gene: EFHC1

Alternate names for this Gene: EJM1|POC9|RIB72|dJ304B14.2

Gene 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.

Gene is located in Chromosome: 6

Location in Chromosome : 6p12.2

Description of this Gene: EF-hand domain containing 1

Type of Gene: protein-coding

Gene: TRAM2

Alternate names for this Gene: -

Gene Summary: TRAM2 is a component of the translocon, a gated macromolecular channel that controls the posttranslational processing of nascent secretory and membrane proteins at the endoplasmic reticulum (ER) membrane.[supplied by OMIM, Jul 2004]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: D31762.1, SRR1803614.72826.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000182527.4/ ENSP00000182527.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END##

Gene is located in Chromosome: 6

Location in Chromosome : 6p12.2

Description of this Gene: translocation associated membrane protein 2

Type of Gene: protein-coding