CHCHD10

CHCHD10
Identifiers
AliasesCHCHD10, C22orf16, FTDALS2, N27C7-4, IMMD, SMAJ, coiled-coil-helix-coiled-coil-helix domain containing 10, MIX17A
External IDsOMIM: 615903; MGI: 2143558; GeneCards: CHCHD10
Available structures
PDBOrtholog search: PDBe RCSB
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
Entrez

400916

103172

Ensembl

ENSG00000273607
ENSG00000250479

ENSMUSG00000049422

UniProt

Q8WYQ3

Q7TNL9

RefSeq (mRNA)

NM_001301339
NM_213720

NM_175329

RefSeq (protein)

NP_001288268
NP_998885

NP_780538

Location (UCSC)Chr 22: 23.77 – 23.77 MbChr 10: 75.77 – 75.77 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

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.

Structure

The CHCHD10 gene is located on the q arm of chromosome 22 at position 11.23 and it spans 2,138 base pairs. The CHCHD10 gene produces a 14.9 kDa protein composed of 149 amino acids. It is enriched at cristae junctions in the intermembrane space of the mitochondria. 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 motif and two additional cysteines. A total of four cysteines are predicted to form two disulfide bonds.

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.

Clinical significance

CHCHD10-related disorders include Myopathy, isolated mitochondrial, autosomal dominant (IMMD),

FTDALS1

Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (FTDALS1), Spinal muscular atrophy, Jokela type (SMAJ).

FTDALS2

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 frontal and 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.

SMAJ

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 proximal and distal muscles of the upper and lower limbs. The disorder results in weakness and mild muscle atrophy later in life.

IMMD

Myopathy, isolated mitochondrial, autosomal dominant (IMMD) is a mitochondrial myopathy presenting with severe exercise intolerance, progressive proximal weakness, and lactic acidemia. The disorder is slowly progressive, with later involvement of facial muscles, muscles of the upper limbs, and distal muscles.

Others

Mutations in CHCHD10 has also been found to be associated with cerebellar ataxia, frontotemporal dementia (FTD), and other mitochondrial diseases.

Interactions

CHCHD10 has been known to interact with C1QBP, CLPX, FAF1, RNASEH1, ZNF444, KLF13, and other proteins.

References

  1. 1 2 3 ENSG00000250479 GRCh38: Ensembl release 89: ENSG00000273607, ENSG00000250479 – Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000049422 – Ensembl, May 2017
  3. ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 1 2 3 4 "Entrez Gene: coiled-coil-helix-coiled-coil-helix domain containing 10". Retrieved 2018-08-14.Public Domain This article incorporates text from this source, which is in the public domain.
  6. 1 2 3 4 5 6 7 "CHCHD10 - Coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial precursor - Homo sapiens (Human) - CHCHD10 gene & protein". UniProt. Archived from the original on 2018-08-14. Retrieved 2018-08-07. This article incorporates text available under the CC BY 4.0 license.
  7. 1 2 3 4 5 6 7 "UniProt: the universal protein knowledgebase". Nucleic Acids Research. 45 (D1): D158–D169. January 2017. doi:10.1093/nar/gkw1099. PMC 5210571. PMID 27899622.
  8. ↑ Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, et al. (October 2013). "Integration of cardiac proteome biology and medicine by a specialized knowledgebase". Circulation Research. 113 (9): 1043–1053. doi:10.1161/CIRCRESAHA.113.301151. PMC 4076475. PMID 23965338.
  9. ↑ "Coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial". Cardiac Organellar Protein Atlas Knowledgebase (COPaKB).[permanent dead link]
  10. 1 2 3 Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, et al. (August 2014). "A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement". Brain: A Journal of Neurology. 137 (Pt 8): 2329–2345. doi:10.1093/brain/awu138. PMC 4107737. PMID 24934289.
  11. ↑ Ajroud-Driss S, Fecto F, Ajroud K, Lalani I, Calvo SE, Mootha VK, et al. (January 2015). "Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy". Neurogenetics. 16 (1): 1–9. doi:10.1007/s10048-014-0421-1. PMC 4796476. PMID 25193783.
  12. ↑ Mick DU, Dennerlein S, Wiese H, Reinhold R, Pacheu-Grau D, Lorenzi I, et al. (December 2012). "MITRAC links mitochondrial protein translocation to respiratory-chain assembly and translational regulation". Cell. 151 (7): 1528–1541. doi:10.1016/j.cell.2012.11.053. hdl:11858/00-001M-0000-000E-DDDF-4. PMID 23260140.

This article incorporates text from the United States National Library of Medicine (), which is in the public domain.