CHCHD10

GENE INFORMATION

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Gene name

CHCHD10 (HGNC Symbol)

Synonyms

C22orf16, N27C7-4

Description

Coiled-coil-helix-coiled-coil-helix domain containing 10 (HGNC Symbol)

Entrez gene summary

This gene encodes a mitochondrial protein that is enriched at cristae junctions in the intermembrane space. It may play a role in cristae morphology maintenance or oxidative phosphorylation. Mutations in this gene cause frontotemporal dementia and/or amyotrophic lateral sclerosis-2. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 7 and 19. [provided by RefSeq, Aug 2014]

Chromosome

22

Cytoband

q11.23

Chromosome location (bp)

23765834 - 23768443

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000250479 (version 78.38)

Entrez gene

400916

UniProt

Q8WYQ3 (UniProt - Evidence at protein level)

neXtProt

NX_Q8WYQ3

Antibodypedia

CHCHD10 antibodies
 

PROTEIN VIEW

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CHCHD10-001
 
CHCHD10-002
 
CHCHD10-005
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CHCHD10-001 ENSP00000418428
ENST00000484558
Q8WYQ3
Show all »
Show » Show » 142 14.1 No 0
CHCHD10-002 ENSP00000384973
ENST00000401675
B5MBW9
Show all »
Show » 149 14.9 No 0
CHCHD10-005 ENSP00000430042
ENST00000520222
E5RH03
Show all »
Show » 55 5.8 No 0