Aliases for RHBDL1 Gene
External Ids for RHBDL1 Gene
Previous HGNC Symbols for RHBDL1 Gene
Previous GeneCards Identifiers for RHBDL1 Gene
This gene encodes a protein similar to Rhomboid in Drosophila which is involved in signalling in the Spitz/epidermal growth factor receptor/mitogen-activated protein kinase pathway. The Rhomboid family of proteins consists of intramembrane serine proteases containing several transmembrane domains. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
GeneCards Summary for RHBDL1 Gene
RHBDL1 (Rhomboid Like 1) is a Protein Coding gene. Diseases associated with RHBDL1 include Spastic Paraplegia 7, Autosomal Recessive and Optic Atrophy Plus Syndrome. GO annotations related to this gene include calcium ion binding and serine-type endopeptidase activity. An important paralog of this gene is RHBDL3.
UniProtKB/Swiss-Prot for RHBDL1 Gene
May be involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors.