1. Gene
  2. MTX3 - metaxin 3 Gene

MTX3 - metaxin 3 Gene

Homo sapiens
Gene ID: 345778 | Gene type: protein coding

About MTX3

Cytogenetic location: 5q14.1 Genomic coordinates (GRCh38): 5:79,976,716-79,991,262 (from NCBI)

This gene has 4 transcripts (splice variants), 201 orthologues and 3 paralogues. Ubiquitous expression in brain (RPKM 5.4), thyroid (RPKM 5.2) and 25 other tissues.

Summary

Predicted to be involved in mitochondrion organization. Part of MIB complex and SAM complex. [provided by Alliance of Genome Resources, Apr 2022]

MTX3 Products(3)

mRNA Protein Name
NM_001010891.5 NP_001010891.4 metaxin-3 isoform 2
NM_001167741.2 NP_001161213.1 metaxin-3 isoform 1
NM_001363818.2 NP_001350747.1 metaxin-3 isoform 3

MTX3 Protein Structure

Tom37

Tom37: Outer mitochondrial membrane transport complex protein (8 - 74)

Tom37_C

Tom37_C: Tom37 C-terminal domain (94 - 153)

GST_C_3

GST_C_3: Glutathione S-transferase, C-terminal domain (163 - 236)

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  • 200
  • 312 a.a.
Protein Preferred Names Protein Names

metaxin-3

Related Diseases

Diseases Alias
Loeys-Dietz Syndrome 1

Furlong Syndrome

Loeys-Dietz Aortic Aneurysm Syndrome

LDS1

Aat5

Loeys-Dietz Syndrome Type 1

Aortic Aneurysm, Familial Thoracic 5

Familial Throacic Aortic Aneurysm 5

Loeys-Dietz Syndrome

Aortic Aneurysm Syndrome, Loeys-Dietz Type

Familial Thoracic Aortic Aneurysm 5

Ldas

Marfanoid Disorder-Craniosynostosis Syndrome

Aneurysm, Aortic, Thoracic, Familial, Type 5

Loeys-Dietz Syndrome, Type 1

Loeys-Dietz Syndrome, Type 2a

Transient Arthritis
Childhood Lymphoma

Pediatric Lymphoma

Robinow Syndrome, Autosomal Recessive 1

Robinow Syndrome, Autosomal Recessive

Autosomal Recessive Robinow Syndrome

Covesdem Syndrome

RRS1

Costovertebral Segmentation Defect-Mesomelia Syndrome

Rrs

Costovertebral Segmentation Defect With Mesomelia, Formerly

Covesdem Syndrome, Formerly

Costovertebral Segmentation Defect With Mesomelia

Robinow Syndrome Autosomal Recessive With Aplasia/Hypoplasia Of Phalanges And Metacarpals/Metatarsals

Robinow Syndrome Autosomal Recessive With Brachy-Syn-Polydactyly

Robinow Syndrome, Autosomal Recessive, With Aplasia/Hypoplasia Of Phalanges And Metacarpals/Metatarsals

Robinow Syndrome, Autosomal Recessive, With Brachy-Syn-Polydactyly

Robinow, Autosomal Recessive Syndrome, Type 1

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
Macaca mulatta MTX3 VGNC VGNC:84449
Canis familiaris MTX3 VGNC VGNC:53189
Mus musculus MTX3 MGD MGI:2686040
Rattus norvegicus MTX3 RGD RGD:1583002
Felis catus MTX3 VGNC VGNC:63663
Bos taurus MTX3 VGNC VGNC:55125