full name
mitofusin 2

synonyms
CMT2A, CMT2A2, CPRP1, HSG, MARF, MFN2, ENSG00000116688

HGNC
HGNC:16877

Entrez Gene
Gene:9927

ENSEMBL
ENSG00000116688

location
chr: 1
start: 12040238
stop: 12073572
strand: +

OMIM
OMIM:608507: MFN2 (Autosomal dominant inheritance,Autosomal recessive inheritance)
OMIM:609260: Charcot-Marie-Tooth disease, axonal, type 2A2A
OMIM:617087: Charcot-Marie-Tooth disease, axonal, type 2A2B
OMIM:601152: Hereditary motor and sensory neuropathy VIA

transcripts
NM_014874.3
NM_001127660.1

pathways
Factors involved in megakaryocyte development and platelet production [NCBI:1269377] [REACTOME:R-HSA-983231] [PUBMED:16856888] [PUBMED:17635743] [PUBMED:17934486]
Hemostasis [NCBI:1269340] [REACTOME:R-HSA-109582]
Mitophagy [NCBI:1309218] [REACTOME:R-HSA-5205647] [PUBMED:21179058]
Pink/Parkin Mediated Mitophagy [NCBI:1309219] [REACTOME:R-HSA-5205685] [PUBMED:21179058]