CHCHD6 - coiled-coil-helix-coiled-coil-helix domain containing 6 Gene

Homo sapiens

Also known as CHCM1; Mic25; MICOS25; PPP1R23

Gene ID: 84303 | Gene type: protein coding

About CHCHD6

Cytogenetic location: 3q21.3 Genomic coordinates (GRCh38): 3:126,704,240-126,960,420 (from NCBI)

This gene has 8 transcripts (splice variants), 218 orthologues and 1 paralogue. Broad expression in testis (RPKM 1.6), brain (RPKM 0.9) and 25 other tissues.

Summary

Involved in cellular response to DNA damage stimulus and cristae formation. Located in cytosol and mitochondrial inner membrane. Part of MICOS complex. [provided by Alliance of Genome Resources, Apr 2022]

CHCHD6 Products(2)

mRNA	Protein	Name
NM_001320610.2	NP_001307539.1	MICOS complex subunit MIC25 isoform 1
NM_032343.3	NP_115719.1	MICOS complex subunit MIC25 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	22228767	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in DNA damage response	IDA IDA: Inferred from direct assay	22228767	GOA
involved in cristae formation	IMP IMP: Inferred from mutant phenotype	22228767	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of MICOS complex	IDA IDA: Inferred from direct assay	25781180	GOA
located in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	22228767	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	25781180	GOA
located in mitochondrion	IMP IMP: Inferred from mutant phenotype	22228767	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CHCHD6 Protein Structure

DUF737

0
100
200
235 a.a.

Protein Preferred Names

Protein Names

MICOS complex subunit MIC25

coiled coil helix cristae morphology 1

CHCHD6 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	CHCHD6	Q9BRQ6	SAMM50	Homo sapiens	Q9Y512	Y2H Array	32296183
Intra	CHCHD6	Q9BRQ6	SAMM50	Homo sapiens	Q9Y512	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Combined Oxidative Phosphorylation Deficiency 37

COXPD37

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02603	CHCHD6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	CHCHD6	VGNC	VGNC:60841
Macaca mulatta	CHCHD6	VGNC	VGNC:71119
Bos taurus	CHCHD6	VGNC	VGNC:27274
Mus musculus	CHCHD6	MGD	MGI:1913348
Rattus norvegicus	CHCHD6	RGD	RGD:1304561

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