• Gene id: 91137

Gene Summary

• Gene Symbol: SLC25A46   Gene   UCSC   Ensembl
• Aliases: HMSN6B
• Gene name: solute carrier family 25 member 46
• Alternate names: solute carrier family 25 member 46,
• Gene location: 5q22.1 (25234032: 25279203)     Exons: 11     NC_000004.12
• Gene summary(Entrez): This gene encodes a mitochondrial solute carrier protein family member. It functions in promoting mitochondrial fission, and prevents the formation of hyperfilamentous mitochondria. Mutation of this gene results in neuropathy and optic atrophy. [provided
• OMIM: 610826

Protein Summary

• Protein general information: Q96AG3  
  • Name: Solute carrier family 25 member 46
  • Length: 418  
  • Mass: 46174
• Sequence:

  MHPRRPDGFDGLGYRGGARDEQGFGGAFPARSFSTGSDLGHWVTTPPDIPGSRNLHWGEKSPPYGVPTTSTPYEG
  PTEEPFSSGGGGSVQGQSSEQLNRFAGFGIGLASLFTENVLAHPCIVLRRQCQVNYHAQHYHLTPFTVINIMYSF
  NKTQGPRALWKGMGSTFIVQGVTLGAEGIISEFTPLPREVLHKWSPKQIGEHLLLKSLTYVVAMPFYSASLIETV
  QSEIIRDNTGILECVKEGIGRVIGMGVPHSKRLLPLLSLIFPTVLHGVLHYIISSVIQKFVLLILKRKTYNSHLA
  ESTSPVQSMLDAYFPELIANFAASLCSDVILYPLETVLHRLHIQGTRTIIDNTDLGYEVLPINTQYEGMRDCINT
  IRQEEGVFGFYKGFGAVIIQYTLHAAVLQITKIIYSTLLQNNI

• Structural information:
  • Interpro: IPR018108  IPR023395  IPR039158  
  • Prosite: PS50920
  • STRING: ENSP00000348211
• Other Databases: GeneCards:  SLC25A46  Malacards:  SLC25A46

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0090149	mitochondrial membrane fission	IDA	biological process
GO:0005741	mitochondrial outer membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0090149	mitochondrial membrane fission	IEA	biological process
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048936	peripheral nervous system neuron axonogenesis	IEA	biological process
GO:0031987	locomotion involved in locomotory behavior	IEA	biological process
GO:0016358	dendrite development	IEA	biological process
GO:0007005	mitochondrion organization	IEA	biological process
GO:0022011	myelination in peripheral nervous system	IEA	biological process
GO:0021702	cerebellar Purkinje cell differentiation	IEA	biological process
GO:0021554	optic nerve development	IEA	biological process
GO:0007416	synapse assembly	IEA	biological process
GO:0006839	mitochondrial transport	IEA	biological process
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0000422	autophagy of mitochondrion	IEA	biological process
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component

Diseases

Associated diseases	References
Charcot-Marie-Tooth disease	KEGG:H00264
Charcot-Marie-Tooth disease	KEGG:H00264
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray