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]
