SLC25A30 - solute carrier family 25 member 30 Gene

Homo sapiens

Also known as KMCP1

Gene ID: 253512 | Gene type: protein coding

About SLC25A30

Cytogenetic location: 13q14.13 Genomic coordinates (GRCh38): 13:45,393,316-45,434,016 (from NCBI)

This gene has 8 transcripts (splice variants), 178 orthologues and 49 paralogues. Broad expression in heart (RPKM 22.8), kidney (RPKM 18.0) and 24 other tissues.

Summary

Although the outer mitochondrial membrane is permeable to many small metabolites, transport of solutes across the inner mitochondrial membrane is achieved by members of the mitochondrial carrier protein family, such as SLC25A30 (Haguenauer et al., 2005 [PubMed 15809292]).[supplied by OMIM, Mar 2008]

SLC25A30 Products(3)

mRNA	Protein	Name
NM_001010875.4	NP_001010875.1	kidney mitochondrial carrier protein 1 isoform 1
NM_001286806.2	NP_001273735.1	kidney mitochondrial carrier protein 1 isoform 2
NM_001286807.2	NP_001273736.1	kidney mitochondrial carrier protein 1 isoform 3

SLC25A30 Protein Structure

Mito_carr

0
100
200
291 a.a.

Protein Preferred Names

Protein Names

kidney mitochondrial carrier protein 1

Related Diseases

Diseases

Alias

Chromosome 22q11.2 Deletion Syndrome, Distal

22q11.2 Deletion Syndrome	Autosomal Dominant Opitz G/Bbb Syndrome
Catch22	Cayler Cardiofacial Syndrome
Conotruncal Anomaly Face Syndrome	Digeorge Syndrome
Sedlackova Syndrome	Shprintzen Syndrome
Velocardiofacial Syndrome	22q11.2 Distal Deletion Syndrome
Distal 22q11.2 Microdeletion Syndrome	22q11.2ds
Vcfs	Velo-Cardio-Facial Syndrome
Distal Chromosome 22q11.2 Deletion Syndrome	Chromosome 22q11.2 Deletion Syndrome Distal
Chromosome 22q11.2 Deletion Syndrome	Deletion 22q11.2 Syndrome
22q11ds	Catch 22
Digeorge Sequence	Microdeletion 22q11.2
Monosomy 22q11	Takao Syndrome
Distal Del(22)(Q11.2)	Distal Monosomy 22q11.2
Catch 22 Syndrome	Chromosome Deletion Syndrome 22q11.2, Distal

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-RS13112	SLC25A30 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SLC25A30	RGD	RGD:1359702
Bos taurus	SLC25A30	VGNC	VGNC:34756
Macaca mulatta	SLC25A30	VGNC	VGNC:106297
Canis familiaris	SLC25A30	VGNC	VGNC:46304
Felis catus	SLC25A30	VGNC	VGNC:65268
Mus musculus	SLC25A30	MGD	MGI:1914804

Name
Email *

	Sorry, but the email address you supplied was invalid.