1. Gene
  2. MTX1 - metaxin 1 Gene

MTX1 - metaxin 1 Gene

Homo sapiens

Also known as MTX; MTXN

Gene ID: 4580 | Gene type: protein coding

About MTX1

Cytogenetic location: 1q22 Genomic coordinates (GRCh38): 1:155,208,695-155,213,839 (from NCBI)

This gene has 7 transcripts (splice variants), 210 orthologues and 3 paralogues. Ubiquitous expression in testis (RPKM 23.1), bone marrow (RPKM 13.8) 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]

MTX1 Products(2)

mRNA Protein Name
NM_002455.5 NP_002446.3 metaxin-1 isoform 1
NM_198883.3 NP_942584.2 metaxin-1 isoform 2

MTX1 Protein Structure

Tom37

Tom37: Outer mitochondrial membrane transport complex protein (156 - 224)

Tom37_C

Tom37_C: Tom37 C-terminal domain (244 - 313)

GST_C_2

GST_C_2: Glutathione S-transferase, C-terminal domain (319 - 364)

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  • 466 a.a.
Protein Preferred Names Protein Names

metaxin-1

mitochondrial outer membrane import complex protein 1

Related Diseases

Diseases Alias
Gaucher'S Disease

Gaucher Disease

Kerasin Thesaurismosis

Glucocerebrosidase Deficiency

Glucosylceramidase Deficiency

Cerebroside Lipidosis Syndrome

Acid Beta-Glucosidase Deficiency

Glucosylceramide Beta-Glucosidase Deficiency

Acute Cerebral Gaucher Disease

Gaucher Splenomegaly

Glucocerebrosidosis

Glucosyl Cerebroside Lipidosis

Kerasin Lipoidosis

Lipoid Histiocytosis

Glocucerebrosidase Deficiency

Sphingolipidosis 1

Gaucher Syndrome

Gauchers Disease

Gd

Glucosylceramide Lipidosis

Kerasin Histiocytosis

Gaucher Disease, Type 1

Gaucher Disease, Type 2

Non-Syndromic X-Linked Intellectual Disability 1

Mrx1

Mrx18

Mrx78

X-Linked Mental Retardation 1/78

X-Linked Mental Retardation 18

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability

Non-Specific X-Linked Mental Retardation

X-Linked Non-Specific Intellectual Disability

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
Canis familiaris MTX1 VGNC VGNC:53621
Bos taurus MTX1 VGNC VGNC:55630
Mus musculus MTX1 MGD MGI:103025
Rattus norvegicus MTX1 RGD RGD:1559791