1. Gene
  2. SLC25A15 - solute carrier family 25 member 15 Gene

SLC25A15 - solute carrier family 25 member 15 Gene

Homo sapiens

Also known as HHH; ORC1; ORNT1; LNC-HC; D13S327

Gene ID: 10166 | Gene type: protein coding

About SLC25A15

Cytogenetic location: 13q14.11 Genomic coordinates (GRCh38): 13:40,789,611-40,812,460 (from NCBI)

This gene has 4 transcripts (splice variants), 253 orthologues, 49 paralogues and is associated with 3 phenotypes. Broad expression in liver (RPKM 22.5), duodenum (RPKM 18.6) and 18 other tissues.

Summary

This gene is a member of the mitochondrial carrier family. The encoded protein transports ornithine across the inner mitochondrial membrane from the cytosol to the mitochondrial matrix. The protein is an essential component of the urea cycle, and functions in ammonium detoxification and biosynthesis of the amino acid arginine. Mutations in this gene result in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. There is a pseudogene of this locus on the Y chromosome.[provided by RefSeq, May 2009]

SLC25A15 Products(1)

mRNA Protein Name
NM_014252.4 NP_055067.1 mitochondrial ornithine transporter 1

SLC25A15 Protein Structure

Mito_carr

Mito_carr: Mitochondrial carrier protein (9 - 94)

Mito_carr

Mito_carr: Mitochondrial carrier protein (105 - 199)

Mito_carr

Mito_carr: Mitochondrial carrier protein (207 - 296)

  • 0
  • 100
  • 200
  • 301 a.a.
Protein Preferred Names Protein Names

mitochondrial ornithine transporter 1

hyperammonemia-hyperornithinemia-homocitrullinuria syndrome

Related Diseases

Diseases Alias
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

Hhh Syndrome

Ornithine Translocase Deficiency

Hyperornithinemia-Hyperammonemia-Homocitrullinemia Syndrome

HHHS

Hhh

Triple H Syndrome

Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

Ornithine Translocase Deficiency Syndrome

Hyperornithinaemia-Hyperammonaemia-Homocitrullinuria Syndrome

Ornt1 Deficiency

Ornithine Carrier Deficiency

Hyperornithinemia, Hyperammonemia, Homocitrullinuria Syndrome

Gyrate Atrophy Of Choroid And Retina

Gyrate Atrophy

Ornithine Aminotransferase Deficiency

HOGA

Hyperornithinemia With Gyrate Atrophy Of Choroid And Retina

Oat Deficiency

Okt Deficiency

Hyperornithinemia

Ornithine Keto Acid Aminotransferase Deficiency

Ornithine-Delta-Aminotransferase Deficiency

Gyrate Atrophy Of The Choroid And Retina

GACR

Gyrate Atrophy Of Choroid And Retina With Or Without Ornithinemia

Gyrate Atrophy Of The Retina

Ornithinemia With Gyrate Atrophy

Ornithinemia

Fuchs Atrophia Gyrata Chorioideae Et Retinae

Hyperornithinemia-Gyrate Atrophy Of Choroid And Retina Syndrome

Gyrate Atrophy Of The Choroid And/Or Retina

Girate Atrophy Of The Retina

Ornithine Ketoacid Aminotransferase Deficiency

Atrophy, Gyrate, Of Choroid And Retina

Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To

CA5AD

Hyperammonemia Due To Carbonic Anhydrase Va Deficiency

Hyperammonemia

Deafness, Autosomal Recessive 65

DFNB65

Autosomal Recessive Nonsyndromic Deafness 65

Autosomal Recessive Deafness 65

Citrullinemia, Type Ii, Adult-Onset

Citrin Deficiency

CTLN2

Citrullinemia Type Ii

Adult-Onset Citrullinemia Type 2

Adult-Onset Type Ii Citrullinemia

Citrullinemia, Adult-Onset Type Ii

Adult-Onset Citrin Deficiency

Adult-Onset Citrullinemia Type Ii

Citrullinemia Type 2

Citrullinemia 2

Citrullinemia, Type Ii

Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To

Carbamoyl Phosphate Synthetase I Deficiency

Cps I Deficiency

Carbamoyl Phosphate Synthetase I Deficiency Disease

Carbamoyl-Phosphate Synthase I Deficiency Disease

Congenital Hyperammonemia, Type I

Carbamoylphosphate Synthetase I Deficiency

Carbamoyl Phosphate Synthetase 1 Deficiency

CPS1D

Carbamoyl Phosphate Synthetase Deficiency

Cps 1 Deficiency

Carbamyl Phosphate Synthetase Deficiency

Hyperammonemia Due To Carbamoyl Phosphate Synthetase 1 Deficiency

Carbamyl-Phosphate Synthetase I Deficiency Disease

Carbamoyl-Phosphate Synthetase 1 Deficiency

Cps1 Deficiency

Carbamoyl-Phosphate Synthetase I Deficiency

Carbamoyl-Phosphate Synthetase Deficiency

Hyperammonemia Due To Carbamoyl Phosphate Synthetase I Deficiency

Deficiency, Carbamoylphosphate Synthetase I

Carbamylphosphate Synthetase Deficiency

N-Acetylglutamate Synthase Deficiency

Nags Deficiency

N-Acetylglutamate Synthetase Deficiency

Hyperammonemia, Type Iii

Hyperammonemia Due To N-Acetylglutamate Synthetase Deficiency

NAGSD

Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency

N-Acetyl Glutamate Synthetase Deficiency

Nag Synthetase Deficiency

Deficiency, N-Acetylglutamate Synthase

Urea Cycle Disorder

Urea Cycle Disorders

Urea Cycle Disorders, Inborn

Disorder Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia

Disorder Of Urea Cycle Metabolism

Urea Cycle Defect

Ucd

Disorder Of The Urea Cycle Metabolism

Disorder Of Urea Cycle

Disorders Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia

Ammonia Metabolic Disorder

Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To

Ornithine Carbamoyltransferase Deficiency

Ornithine Transcarbamylase Deficiency

Otc Deficiency

Ornithine Carbamoyltransferase Deficiency Disease

OTCD

Deficiency Of Citrulline Phosphorylase

Oct Deficiency

Hyperammonemia Due To Ornithine Carbamoyltransferase Deficiency

Deficiency, Ornithine Carbamoyltransferase

Argininosuccinic Aciduria

Argininosuccinate Lyase Deficiency

Asl Deficiency

Argininosuccinic Acid Lyase Deficiency

Argininosuccinase Deficiency

Argininosuccinic Acidemia

Arginosuccinase Deficiency

Asa Deficiency

Argininosuccinicaciduria

Asauria

Deficiency Of Argininosuccinate Lyase

Asld

Arginino Succinase Deficiency

Argininosuccinate Acidemia

Inborn Error Of Urea Synthesis, Arginino Succinic Type

Urea Cycle Disorder, Arginino Succinase Type

Argininosuccinyl-Coa Lyase Deficiency

Asa

Argininosuccinatelyase Deficiency

ARGINSA

Aciduria Argininosuccinic

Citrullinemia

Argininosuccinic Acidaemia

Metabolic Disorder Of Arginosuccinic Acid

Hyperekplexia 3

HKPX3

Hyperekplexia, Type 3

Citrullinemia, Classic

Citrullinemia

Classic Citrullinemia

Argininosuccinate Synthetase Deficiency

Ass Deficiency

Citrullinemia Type I

CTLN1

Citrullinuria

Citrullinemia, Type I

Argininosuccinic Acid Synthetase Deficiency

Ctnl1

Citrullinemia 1

Deficiency Of Citrulline-Aspartate Ligase

Cit

Argininosuccinate Synthase Deficiency

Argininosuccinic Acid Synthase Deficiency

Citrullinemia Type 1

Citrullinemia Classical

Argininemia

Hyperargininemia

Arginase Deficiency

Arg1 Deficiency

Arginase-1 Deficiency

Deficiency Of Canavanase

Arginase Deficiency Disease

ARGIN

Spastic Paraparesis
Orotic Aciduria

Hereditary Orotic Aciduria

Orotidylic Pyrophosphorylase And Orotidylic Decarboxylase Deficiency

Uridine Monophosphate Synthase Deficiency

Umps Deficiency

Uridine Monophosphate Synthetase Deficiency

Orotic Aciduria I

Orotate Phosphoribosyltransferase And Orotidylic Decarboxylase Deficiency

Oprt And Odc Deficiency

Ump Synthase Deficiency

Orotic Aciduria Ii

Oroticaciduria 1

Orotic Aciduria Hereditary

Orotic Aciduria Type 1

Hereditary Orotic Aciduria Without Megaloblastic Anemia

Orotate Phosphoribosyltransferase And Omp Decarboxylase Deficiency

Ump Synthtase Deficiency

Umps

Orotidylic Decarboxylase Deficiency

Orotic Aciduria 1

ORAC1

Aciduria, Orotic

Hereditary Orotic Aciduria, Type 1

Orotic Aciduria Nos

Orotaciduric Anaemia

Orotic Aciduria Anaemia

Orotic Aciduria Megaloblastic Anaemia

Pyrimidine Metabolic Disorder

Disorder Of Pyrimidine Metabolism

Pyrimidine Metabolism Disorder

Amino Acid Metabolic Disorder

Amino Acid Metabolism, Inborn Errors

Inborn Errors Of Amino Acid Metabolism

Disorder Of Amino Acid Metabolism

Amino Acid Metabolism Disorders

Autosomal Dominant Nonsyndromic Deafness

Autosomal Dominant Deafness

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

Orthologs Information

Species Symbol Source ID
Bos taurus SLC25A15 VGNC VGNC:54486
Mus musculus SLC25A15 MGD MGI:1342274
Felis catus SLC25A15 VGNC VGNC:65257
Rattus norvegicus SLC25A15 RGD RGD:1311488
Canis familiaris SLC25A15 VGNC VGNC:54359