EFHC1

EFHC1
Identifiers
AliasesEFHC1, EJM1, dJ304B14.2, EF-hand domain containing 1, POC9, RIB72
External IDsOMIM: 608815; MGI: 1919127; HomoloGene: 10003; GeneCards: EFHC1; OMA:EFHC1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

114327

71877

Ensembl

ENSG00000096093

ENSMUSG00000041809

UniProt

Q5JVL4

Q9D9T8

RefSeq (mRNA)

NM_001172420
NM_018100

NM_027974

RefSeq (protein)

NP_001165891
NP_060570
NP_001165891.1
NP_060570.2

NP_082250

Location (UCSC)Chr 6: 52.36 – 52.53 MbChr 1: 21.02 – 21.06 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

EF-hand domain-containing protein 1 is a protein that in humans is encoded by the EFHC1 gene.

Not all variants of EFHC1 are pathogenic.