View source for CHCHD10

{{Short description|Protein-coding gene in the species Homo sapiens}}
'''Coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial''', also known as '''Protein N27C7-4''' is a [[protein]] that in humans is encoded by the ''CHCHD10'' gene.<ref name="entrez">
{{cite web
| title = Entrez Gene: coiled-coil-helix-coiled-coil-helix domain containing 10
| url = https://www.ncbi.nlm.nih.gov/gene/400916
| access-date = 2018-08-14
}}{{PD-notice}}</ref><ref name = "uniprot">{{Cite web|url=https://www.uniprot.org/uniprot/P30049|title=CHCHD10 - Coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial precursor - Homo sapiens (Human) - CHCHD10 gene & protein|access-date=2018-08-07|archive-date=2018-08-14|archive-url=https://web.archive.org/web/20180814040020/https://www.uniprot.org/uniprot/P30049|url-status=live}}{{CC-notice|cc=by4 | url=https://www.uniprot.org/uniprot/Q8WYQ3 | work = UniProt }}</ref><ref name="uniprot0">
{{cite journal | title = UniProt: the universal protein knowledgebase | journal = Nucleic Acids Research | volume = 45 | issue = D1 | pages = D158–D169 | date = January 2017 | pmid = 27899622 | pmc = 5210571 | doi = 10.1093/nar/gkw1099 }}
</ref>
==Structure==
The ''CHCHD10'' gene is located on the [[Locus (genetics)|q arm]] of [[chromosome 22]] at position 11.23 and it spans 2,138 base pairs.<ref name = entrez /> The ''CHCHD10'' gene produces a 14.9 kDa protein composed of 149 [[amino acids]].<ref name=COPaKB>
{{cite journal | vauthors = Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, Deng N, Kim AK, Choi JH, Zelaya I, Liem D, Meyer D, Odeberg J, Fang C, Lu HJ, Xu T, Weiss J, Duan H, Uhlen M, Yates JR, Apweiler R, Ge J, Hermjakob H, Ping P | title = Integration of cardiac proteome biology and medicine by a specialized knowledgebase | journal = Circulation Research | volume = 113 | issue = 9 | pages = 1043–53 | date = Oct 2013 | pmid = 23965338 | pmc = 4076475 | doi = 10.1161/CIRCRESAHA.113.301151 }}
</ref><ref name="url_COPaKB">{{cite web | url = https://amino.heartproteome.org/web/protein/B5MBW9 | work = Cardiac Organellar Protein Atlas Knowledgebase (COPaKB) | title = Coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial }}{{Dead link|date=October 2019 |bot=InternetArchiveBot |fix-attempted=yes }}</ref> It is enriched at [[cristae]] junctions in the [[intermembrane space]] of the [[mitochondria]].<ref name = entrez /> The structure of the protein contains a nonstructured [[N-terminal]] region, a hydrophobic helix and a [[C-terminal]] CHCH domain which contains a Cx(9)C [[protein motif|motif]] and two additional [[cysteine]]s. A total of four [[cysteine]]s are predicted to form two [[disulfide bonds]].<ref name = "hi">
{{cite journal |last1=Bannwarth |first1=S |last2=Ait-El-Mkadem |first2=S |last3=Chaussenot |first3=A |last4=Genin |first4=EC |last5=Lacas-Gervais |first5=S |last6=Fragaki |first6=K |last7=Berg-Alonso |first7=L |last8=Kageyama |first8=Y |last9=Serre |first9=V |last10=Moore |first10=DG |last11=Verschueren |first11=A |last12=Rouzier |first12=C |last13=Le Ber |first13=I |last14=Augé |first14=G |last15=Cochaud |first15=C |last16=Lespinasse |first16=F |last17=N'Guyen |first17=K |last18=de Septenville |first18=A |last19=Brice |first19=A |last20=Yu-Wai-Man |first20=P |last21=Sesaki |first21=H |last22=Pouget |first22=J |last23=Paquis-Flucklinger |first23=V |title=A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement. |journal=Brain: A Journal of Neurology |date=August 2014 |volume=137 |issue=Pt 8 |pages=2329–45 |doi=10.1093/brain/awu138 |pmid=24934289|pmc=4107737 }}
</ref>
==Function==
This gene encodes for 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]].<ref name = entrez />
==Clinical significance==
CHCHD10-related disorders include [[mitochondrial myopathy|Myopathy, isolated mitochondrial, autosomal dominant (IMMD)]],<ref>
{{cite journal |last1= Ajroud-Driss |first1= Senda |last2= Fecto |first2= Faisal |date= 6 September 2014|title= Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy
|journal= Neurogenetics |volume=16 |issue=1 |pages=1–9 |doi= 10.1007/s10048-014-0421-1 |pmid= 25193783 |pmc=4796476 }}
===Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (FTDALS2)===
</ref> [[amyotrophic lateral sclerosis|Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (FTDALS2)]],<ref name=":0">
{{cite journal |last1= Bannwarth |first1= Sylvie |last2= Ait-El-Mkadem |first2= Samira |date= 16 June 2014 |title= A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement|journal= Brain |volume= 137|issue= 8 |pages= 2329–2345 |doi=  10.1093/brain/awu138 |pmid=24934289 |pmc=4107737}}
</ref> [[late-onset spinal motor neuronopathy|Spinal muscular atrophy, Jokela type (SMAJ)]].<ref name = "uniprot"/><ref name = "uniprot0"/>
===Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (FTDALS2)===
[[amyotrophic lateral sclerosis|Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (FTDALS2)]] is a [[neurodegenerative disorder]] with high intrafamilial variation with [[phenotypes]] such as
frontotemporal dementia and/or [[amyotrophic lateral sclerosis]]. [[Frontotemporal dementia]] is characterized by [[atrophy|frontal]] and [[atrophy|temporal lobe atrophy]] associated with [[neuronal loss]], [[gliosis]], and [[dementia]]. Patients exhibit progressive changes in social, behavioral, and/or language function. [[Amyotrophic lateral sclerosis]] is characterized by the death of [[motor neurons]] in the [[brain]], [[brainstem]], and [[spinal cord]], resulting in fatal [[paralysis]].<ref name = "uniprot"/><ref name = "uniprot0"/>
===Spinal muscular atrophy, Jokela type (SMAJ)===
[[late-onset spinal motor neuronopathy|Spinal muscular atrophy, Jokela type (SMAJ)]] is an autosomal dominant, slowly progressive, lower motor neuron disease. SMAJ is characterized by adult-onset of [[muscle cramps]] and [[fasciculations]] affecting the [[Muscle weakness#Proximal and distal|proximal]] and [[Muscle weakness#Proximal and distal|distal muscles]] of the upper and lower limbs. The disorder results in [[muscle weakness|weakness]] and mild [[muscle atrophy]] later in life.<ref name = "uniprot"/><ref name = "uniprot0"/>
===Myopathy, isolated mitochondrial, autosomal dominant (IMMD)===
[[Myopathy|Myopathy, isolated mitochondrial, autosomal dominant (IMMD)]] is a [[mitochondrial myopathy]] presenting with severe [[exercise intolerance]], progressive [[Muscle weakness#Proximal and distal|proximal weakness]], and [[lactic acidemia]]. The disorder is slowly progressive, with later involvement of [[facial muscles]], muscles of the upper limbs, and distal muscles.<ref name = "uniprot"/><ref name = "uniprot0"/>
===Others===
Mutations in ''CHCHD10'' has also been found to be associated with [[cerebellar ataxia]], [[frontotemporal dementia]] (FTD), and other [[Muscle weakness#Proximal and distal|mitochondrial diseases]].<ref name=":0"/><ref name = "uniprot"/><ref name = "uniprot0"/>
==Interactions==
CHCHD10 has been known to interact with [[C1QBP]], CLPX, [[FAF1]], [[RNASEH1]], ZNF444, [[KLF13]], and other proteins.<ref name = "hi22">
{{cite journal | vauthors = Mick DU, Dennerlein S, Wiese H, Reinhold R, Pacheu-Grau D, Lorenzi I, Sasarman F, Weraarpachai W, Shoubridge EA, Warscheid B, Rehling P | title = MITRAC links mitochondrial protein translocation to respiratory-chain assembly and translational regulation | journal = Cell | volume = 151 | issue = 7 | pages = 1528–41 | date = December 2012 | pmid = 23260140 | doi = 10.1016/j.cell.2012.11.053 | doi-access = free | hdl = 11858/00-001M-0000-000E-DDDF-4 | hdl-access = free }}</ref><ref name = "uniprot" /><ref name="uniprot0"/>
==References==
{{reflist}}
{{NLM content|url=http://ghr.nlm.nih.gov/gene/CHCHD10}}
[[Category:Genes on human chromosome 22]]
[[Category:RNA splicing]]