LRTOMT - leucine rich transmembrane and O-methyltransferase domain containing Gene

Also Known as TOMT; DFNB63; LRRC51; CFAP111; LRRC51-TOMT

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 220074

About LRTOMT

Cytogenetic location: 11q13.4 Genomic coordinates (GRCh38): 11:72,080,850-72,110,782 (from NCBI)

This gene has 6 transcripts (splice variants) and is associated with 1 phenotype. Broad expression in testis (RPKM 6.2), thyroid (RPKM 2.2) and 25 other tissues.

Summary

This locus represents naturally occurring readthrough transcription between the neighboring LRRC51 (leucine-rich repeat containing 51) and TOMT (transmembrane O-methyltransferase) genes on chromosome 11. The readthrough transcript encodes a fusion protein that shares sequence identity with each individual gene product. Multiple reports implicate mutations in this gene in nonsyndromic deafness.[provided by RefSeq, Feb 2021]

LRTOMT Products (3)

mRNA Protein Name
NM_001145308.5 NP_001138780.1 transmembrane O-methyltransferase isoform LRTOMT2a
NM_001145309.4 NP_001138781.1 transmembrane O-methyltransferase isoform LRTOMT2a
NM_001145310.4 NP_001138782.1 transmembrane O-methyltransferase isoform LRTOMT2b

LRTOMT Protein Structure

LRR_9

LRR_9: Leucine-rich repeat (102 - 173)

  • 0
  • 100
  • 192 a.a.
Protein Preferred Names Protein Names

transmembrane O-methyltransferase

  • leucine rich transmembrane and 0-methyltransferase domain containing

Related Diseases

Diseases Alias
Deafness, Autosomal Recessive 63
  • DFNB63

  • Autosomal Recessive Nonsyndromic Deafness 63

  • Autosomal Recessive Deafness 63

  • Deafness, Autosomal Recessive, 63

  • Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 63

  • Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 63

  • Deafness, Autosomal Recessive, Type 63

Rare Genetic Deafness
  • Rare Genetic Hearing Loss

Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb
  • Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb

  • Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb

  • Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb

  • Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb

  • Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb

  • Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb

  • Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb

Deafness, Autosomal Recessive 35
  • DFNB35

  • Autosomal Recessive Nonsyndromic Deafness 35

  • Autosomal Recessive Deafness 35

  • Deafness, Autosomal Recessive, 35

  • Deafness, Autosomal Recessive, Type 35

Deafness, Autosomal Recessive 33
  • DFNB33

  • Autosomal Recessive Nonsyndromic Deafness 33

  • Autosomal Recessive Deafness 33

Deafness, Autosomal Recessive 67
  • DFNB67

  • Autosomal Recessive Nonsyndromic Deafness 67

  • Autosomal Recessive Deafness 67

  • Deafness, Autosomal Recessive, 67

  • Deafness, Autosomal Recessive, Type 67

Deafness, Autosomal Recessive 21
  • DFNB21

  • Autosomal Recessive Nonsyndromic Deafness 21

  • Autosomal Recessive Deafness 21

  • Deafness, Autosomal Recessive, 21

  • Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 21

  • Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 21

  • Deafness, Autosomal Recessive, Type 21

Deafness, Autosomal Recessive 6
  • DFNB6

  • Neurosensory Nonsyndromic Recessive Deafness 6

  • Nsrd6

  • Autosomal Recessive Nonsyndromic Deafness 6

  • Autosomal Recessive Deafness 6

  • Deafness, Autosomal Recessive, 6

  • Deafness Neurosensory Autosomal Recessive 6

  • Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 6

  • Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 6

  • Deafness, Autosomal Recessive, Type 6

Deafness, Autosomal Recessive 93
  • DFNB93

  • Autosomal Recessive Nonsyndromic Deafness 93

  • Autosomal Recessive Deafness 93

  • Deafness, Autosomal Recessive, 93

  • Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 93

  • Deafness, Autosomal Recessive, Type 93

Mannosidosis, Beta A, Lysosomal
  • Beta-Mannosidosis

  • Lysosomal Beta-Mannosidase Deficiency

  • Beta-Mannosidase Deficiency

  • Beta-D-Mannosidosis

  • Mannosidosis, Beta

  • MANSB

  • Lysosomal Beta A Mannosidosis

Autosomal Recessive Nonsyndromic Deafness 3
  • Autosomal Recessive Deafness 3, Neurosensory Nonsyndromic Recessive Deafness 3

  • Dfnb3

  • Nrsd3

  • Deafness, Autosomal Recessive 3

Deafness, Autosomal Recessive 2
  • DFNB2

  • Neurosensory Nonsyndromic Recessive Deafness 2

  • Nsrd2

  • Autosomal Recessive Nonsyndromic Deafness 2

  • Deafness, Autosomal Recessive, Type 2

  • Autosomal Recessive Deafness 2

  • Deafness, Autosomal Recessive, 2

  • Deafness Neurosensory Autosomal Recessive 2

  • Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 2

  • Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 2

  • Deafness, Autosomal Recessive 2, Neurosensory

Autosomal Recessive Nonsyndromic Deafness
  • Deafness, Autosomal Recessive, Nonsyndromic

Deafness, Autosomal Recessive 12
  • DFNB12

  • Deafness, Autosomal Recessive 12, Modifier Of

  • Autosomal Recessive Nonsyndromic Deafness 12

  • Autosomal Recessive Deafness 12

  • Deafness, Autosomal Recessive, 12

  • Congenital Neurosensory Deafness Autosomal Recessive 12

  • Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 12

  • Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 12

  • Deafness, Autosomal Recessive, Type 12

Autosomal Dominant Nonsyndromic Deafness
  • Autosomal Dominant Deafness

Usher Syndrome
  • Deafness-Retinitis Pigmentosa Syndrome

  • Dystrophia Retinae Pigmentosa-Dysostosis Syndrome

  • Graefe-Usher Syndrome

  • Hallgren Syndrome

  • Usher'S Syndrome

  • Retinitis Pigmentosa-Deafness Syndrome

  • Retinitis Pigmentosa-Hearing Loss Syndrome

  • Ush

  • Usher Syndromes

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
Rattus norvegicus LRTOMT RGD RGD:1561509
Others LRTOMT NCBI