METTL23 - methyltransferase like 23 Gene

Homo sapiens

Also known as MRT44; C17orf95

Gene ID: 124512 | Gene type: protein coding

About METTL23

Cytogenetic location: 17q25.1 Genomic coordinates (GRCh38): 17:76,726,041-76,733,881 (from NCBI)

This gene has 15 transcripts (splice variants), 191 orthologues, 4 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 11.1), thyroid (RPKM 8.5) and 25 other tissues.

Summary

The protein encoded by this gene functions as a transcription factor regulator in the transcriptional pathway for human cognition. It is a partner of the alpha subunit of the GA-binding protein transcription factor. Mutations in this gene cause mild autosomal recessive intellectual disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

METTL23 Products(16)

mRNA	Protein	Name
NM_001080510.5	NP_001073979.3	histone-arginine methyltransferase METTL23 isoform 1
NM_001206983.3	NP_001193912.1	histone-arginine methyltransferase METTL23 isoform 1
NM_001206984.3	NP_001193913.1	histone-arginine methyltransferase METTL23 isoform 1
NM_001206985.3	NP_001193914.1	histone-arginine methyltransferase METTL23 isoform 2
NM_001206986.3	NP_001193915.1	histone-arginine methyltransferase METTL23 isoform 2
NM_001206987.3	NP_001193916.1	histone-arginine methyltransferase METTL23 isoform 2
NM_001302703.2	NP_001289632.1	histone-arginine methyltransferase METTL23 isoform 1
NM_001302704.2	NP_001289633.1	histone-arginine methyltransferase METTL23 isoform 2
NM_001302705.2	NP_001289634.1	histone-arginine methyltransferase METTL23 isoform 3
NM_001378348.1	NP_001365277.1	histone-arginine methyltransferase METTL23 isoform 1
NM_001378349.1	NP_001365278.1	histone-arginine methyltransferase METTL23 isoform 1
NM_001378350.1	NP_001365279.1	histone-arginine methyltransferase METTL23 isoform 3
NM_001378351.1	NP_001365280.1	histone-arginine methyltransferase METTL23 isoform 3
NM_001378352.1	NP_001365281.1	histone-arginine methyltransferase METTL23 isoform 3
NM_001378353.1	NP_001365282.1	histone-arginine methyltransferase METTL23 isoform 3
NM_001378354.1	NP_001365283.1	histone-arginine methyltransferase METTL23 isoform 2

METTL23 Protein Structure

Methyltransf_16

0
100
190 a.a.

Protein Preferred Names

Protein Names

histone-arginine methyltransferase METTL23

probable methyltransferase-like protein 23

methyltransferase-like protein 23

Related Diseases

Diseases

Alias

Intellectual Developmental Disorder, Autosomal Recessive 44

MRT44	Mental Retardation, Autosomal Recessive 44
Autosomal Recessive Intellectual Developmental Disorder 44	Mental Retardation, Autosomal Recessive, Type 44

Autosomal Recessive Non-Syndromic Intellectual Disability

Ar-Nsid

Ns-Arid

Pontocerebellar Hypoplasia, Type 2a

Pontocerebellar Hypoplasia Type 2a	PCH2A
Pch2	Pontocerebellar Hypoplasia With Progressive Cerebral Atrophy
Volendam Neurodegenerative Disease	Pontocerebellar Hypoplasia 2a
Hypoplasia, Pontocerebellar, Type 2a

Pontocerebellar Hypoplasia, Type 2e

Pontocerebellar Hypoplasia Type 2	Pontocerebellar Hypoplasia Type 2e
Pch2	PCH2E
Progressive Microcephaly From Birth Extrapyramidal Dyskinesia Chorea Epilepsy	Pontocerebellar Hypoplasia 2e
Pcca2	Progressive Cerebello-Cerebral Atrophy Type 2
Doid:0112328	Hypoplasia, Pontocerebellar, Type 2e
Pontocerebellar Hypoplasia, Type 2d	Pontocerebellar Hypoplasia Type 2a

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08362	METTL23 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	METTL23	VGNC	VGNC:97284
Felis catus	METTL23	VGNC	VGNC:97505
Mus musculus	METTL23	MGD	MGI:1921569
Rattus norvegicus	METTL23	RGD	RGD:1306284
Macaca mulatta	METTL23	VGNC	VGNC:104631
Canis familiaris	METTL23	VGNC	VGNC:97207

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