1. Gene
  2. TEFM - transcription elongation factor, mitochondrial Gene

TEFM - transcription elongation factor, mitochondrial Gene

Homo sapiens

Also known as C17orf42

Gene ID: 79736 | Gene type: protein coding

About TEFM

Cytogenetic location: 17q11.2 Genomic coordinates (GRCh38): 17:30,898,986-30,906,238 (from NCBI)

This gene has 5 transcripts (splice variants) and 190 orthologues. Ubiquitous expression in kidney (RPKM 3.5), placenta (RPKM 3.5) and 25 other tissues.

Summary

Enables DNA polymerase processivity factor activity. Involved in mitochondrial transcription and oxidative phosphorylation. Located in mitochondrial nucleoid. Part of ribonucleoprotein complex. [provided by Alliance of Genome Resources, Apr 2022]

TEFM Products(1)

mRNA Protein Name
NM_024683.4 NP_078959.3 transcription elongation factor, mitochondrial

TEFM Protein Structure

HHH_3

HHH_3: Helix-hairpin-helix motif (77 - 124)

  • 0
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  • 300
  • 360 a.a.
Protein Preferred Names Protein Names

transcription elongation factor, mitochondrial

transcription elongation factor of mitochondria

Related Diseases

Diseases Alias
Mitochondrial Dna Depletion Syndrome 8a

Mitochondrial Dna Depletion Syndrome 8b

MTDPS8A

Rrm2b-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Renal Tubulopathy

Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Renal Tubulopathy

Mtdna Depletion Syndrome, Encephalomyopathic Form With Renal Tubulopathy

Mitochondrial Dna Depletion Syndrome, Encephalomyopathic, With Renal Tubulopathy, Autosomal Recessive

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Rrm2b-Related

Rrm2b-Related Mitochondrial Dna Depletion Syndrome

Encephalomyopathic Type With Renal Tubulopathy

Rrm2b-Mds

Encephalomyopathic Mitochondrial Depletion Syndrome With Renal Tubulopathy

Mitochondrial Dna Depletion Syndrome 8a Encephalomyopathic Type With Renal Tubulopathy

Mitochondrial Dna Depletion Syndrome Encephalomyopathic With Renal Tubulopathy Autosomal Recessive

MTDPS8B

Mitochondrial Dna Depletion Syndrome 8b Mngie Type

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Rrm2b-Related

Mngie Rrm2b-Related

Visceral Myopathy Familial External Ophthalmoplegia

Mitochondrial Dna Depletion Syndrome, Type 8a

Mitochondrial Dna Depletion Syndrome 14

MTDPS14

Mitochondrial Dna Depletion Syndrome 14, Cardioencephalomyopathic Type

Mitochondrial Dna Depletion Syndrome, Type 14

Mitochondrial Dna Depletion Syndrome 11

MTDPS11

Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome

Mitochondrial Dna Maintenance Syndrome Due To Mgme1 Deficiency

Peo-Myopathy-Emaciation Syndrome

Mtdna Maintenance Syndrome Due To Mgme1 Deficiency

Mitochondrial Dna Depletion Syndrome, Type 11

Seckel Syndrome 8

SCKL8

Seckel Syndrome, Type 8

Mitochondrial Dna Depletion Syndrome 1

MTDPS1

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Tymp-Related

Myoneurogastrointestinal Encephalopathy Syndrome

Polip Syndrome

Mitochondrial Dna Depletion Syndrome, Type 1

Mngie, Tymp-Related

Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, And Intestinal Pseudoobstruction

Mitochondrial Dna Depletion Syndrome 1, Mngie Type

Mitochondrial Neurogastrointestinal Encephalomyopathy

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Tymp-Related

Myoneurogastrointestinal Encephalomyopathy

Polyneuropathy Ophthalmoplegia Leukoencephalopathy And Intestinal Pseudoobstruction

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome

Cardiomyopathy, Infantile Hypertrophic

Infantile Hypertrophic Cardiomyopathy

CMHI

Chromosome 17q11.2 Deletion Syndrome

Nf1 Microdeletion Syndrome

17q11 Microdeletion Syndrome

Neurofibromatosis Type 1 Microdeletion Syndrome

Van Asperen Syndrome

Del(17)(Q11)

Monosomy 17q11

Chromosome 17q11.2 Deletion Syndrome, 1.4mb

Mitochondrial Dna Depletion Syndrome 4b

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome

Mngie Syndrome

Thymidine Phosphorylase Deficiency

MTDPS4B

Mitochondrial Neurogastrointestinal Encephalopathy Disease

Mngie

Myoneurogastrointestinal Encephalopathy Syndrome

Ogimd

Oculogastrointestinal Muscular Dystrophy

Polip

Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, And Intestinal Pseudo-Obstruction

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Polg-Related

Mngie, Polg-Related

Mepop

Mitochondrial Myopathy With Sensorimotor Polyneuropathy, Ophthalmoplegia, And Pseudo-Obstruction

Mngie Disease

Mitochondrial Dna Depletion Syndrome 4b Mngie Type

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Polg-Related

Mngie Polg-Related

Mitochondrial Dna Depletion Syndrome, Type 4b

Visceral Myopathy Familial External Ophthalmoplegia

Mitochondrial Dna Depletion Syndrome 2

Mitochondrial Dna Depletion Syndrome, Myopathic Form

MTDPS2

Tk2-Related Mitochondrial Dna Depletion Syndrome, Myopathic Form

Mitochondrial Dna Depletion Myopathy, Tk2-Related

Tk2-Related Mitochondrial Dna Depletion Myopathy

Mtdna Depletion Syndrome, Myopathic Form

Mitochondrial Dna Depletion Myopathy Tk2-Related

Mitochondrial Dna Depletion Syndrome 2 Myopathic Type

Myopathic Mitochondrial Dna Depletion Syndrome

Mitochondrial Dna Depletion Syndrome, Type 2

Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy

Peripheral Neuropathy And Optic Atrophy

Cmt6

Charcot-Marie-Tooth Disease Type 6

Hmsn Vi

HMSN6A

Hmsn Via

Hmsn6

Cmt6a

Charcot-Marie-Tooth Disease, Type 6

Hereditary Motor And Sensory Neuropathy Type 6

Hereditary Motor And Sensory Neuropathy Type Vi

Neuropathy, Hereditary Motor And Sensory, Type 6a

Neuropathy, Hereditary Motor And Sensory, Type Vi

Charcot-Marie-Tooth Disease, Type 6a

Hereditary Motor And Sensory Neuropathy Via

Hmsn 6

Neuropathy, Hereditary Motor And Sensory, 6a, With Optic Atrophy

Charcot-Marie-Tooth Disease 6

Charcot-Marie-Tooth Disease 6a

Hereditary Motor And Sensory Neuropathy Type Via

Hereditary Motor And Sensory Neuropathy Vi

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 TEFM VGNC VGNC:50118
Macaca mulatta TEFM VGNC VGNC:104664
Canis familiaris TEFM VGNC VGNC:47240
Rattus norvegicus TEFM RGD RGD:1306595
Mus musculus TEFM MGD MGI:1915800
Felis catus TEFM VGNC VGNC:66063