MTHFSD - methenyltetrahydrofolate synthetase domain containing Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 64779

About MTHFSD

Cytogenetic location: 16q24.1 Genomic coordinates (GRCh38): 16:86,530,186-86,555,235 (from NCBI)

This gene has 20 transcripts (splice variants) and 205 orthologues. Ubiquitous expression in testis (RPKM 3.7), prostate (RPKM 2.2) and 25 other tissues.

Summary

Enables RNA binding activity. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]

MTHFSD Products (5)

mRNA	Protein	Name
NM_001159377.2	NP_001152849.1	methenyltetrahydrofolate synthase domain-containing protein isoform 1
NM_001159378.2	NP_001152850.1	methenyltetrahydrofolate synthase domain-containing protein isoform 2
NM_001159379.2	NP_001152851.1	methenyltetrahydrofolate synthase domain-containing protein isoform 4
NM_001159380.2	NP_001152852.1	methenyltetrahydrofolate synthase domain-containing protein isoform 5
NM_022764.3	NP_073601.2	methenyltetrahydrofolate synthase domain-containing protein isoform 3

MTHFSD Protein Structure

5-FTHF_cyc-lig

RRM_1

0
100
200
300
383 a.a.

Protein Preferred Names	Protein Names
methenyltetrahydrofolate synthase domain-containing protein	methenyltetrahydrofolate synthetase domain-containing protein

Related Diseases

Diseases	Alias
Pancreas, Annular	Annular Pancreas Pancreas Annulare Congenital Annular Pancreas
Microphthalmia, Syndromic 3	MCOPS3 Aeg Syndrome Microphthalmia And Esophageal Atresia Syndrome Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome Anophthalmia-Esophageal-Genital Syndrome Optic Nerve Hypoplasia And Abnormalities Of The Central Nervous System Syndromic Microphthalmia 3 Sox2 Anophthalmia Syndrome Anophthalmia Clinical With Associated Anomalies Anophthalmia Esophageal Genital Syndrome Anophthalmia Microphthalmia Esophageal Atresia Syndromic Microphthalmia Type 3 Sox2-Related Eye Disorders Anophthalmia, Clinical, With Associated Anomalies Syndromic Microphthalmia, Type 3 Microphthalmia, Syndromic, 3 Anophthalmia/Microphthalmia-Esophageal Atresia Microphthalmia Syndromic, Type 3
Vacterl Association	Vater Association Vater Syndrome
Diphyllobothriasis	Diphyllobothrium Infection Fish Tapeworm Bothriocephalosis Infection By Bothriocephalus Fish Tapeworm Infection Dibothriocephalus Anaemia Dibothriocephaliasis Broad Tapeworm Infection Bothriocephaliasis Dibothriocephalus Intestinal Diphyllobothriasis Diphyllobothrium Infestation Dibothriocephalus Infestation Bothriocephalus Infestation Adult Diphyllobothrium Infection Tapeworm Anaemia Infection By Diphyllobothrium Larvae
Anus, Imperforate	Imperforate Anus Anorectal Malformation Anal Atresia Anorectal Malformations Congenital Atresia Of Anus Congenital Or Infantile Occlusion Of Anus Anal Stenosis Arm
Bardet-Biedl Syndrome 6	BBS6 Bardet-Biedl Syndrome, Type 6
Feingold Syndrome 1	Feingold Syndrome Oculodigitoesophagoduodenal Syndrome Oded Syndrome Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome Digital Anomalies With Short Palpebral Fissures And Atresia Of Esophagus Or Duodenum FGLDS1 Mmt Syndrome Brunner-Winter Syndrome Feingold Syndrome Type 1 Oded Moded Fglds Microcephaly-Digital Anomalies-Normal Intelligence Syndrome Moded Syndrome Oculo-Digito-Esophageal-Duodenal Syndrome Microcephaly, Mental Retardation, And Tracheoesophageal Fistula Syndrome Microcephaly And Digital Abnormalities With Normal Intelligence Digital Anomalies With Short Palpebral Fissures And Atresia Of Esophagus, Or Duodenum Microcephaly-Mesobrachyphalangy-Tracheoesophageal Fistula Syndrome Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome Oculo-Digito-Esophagoduodental Syndrome Fs Mmt Microcephaly-Intellectual Disability-Tracheoesophageal Fistula Syndrome Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome Syndrome Brunner-Winter Syndrome Type 1 Digital Anomalies With Short Palpebral Fissures And Atresia Of Esophagus Or Duodenum Type 1 Fs1 Mmt Type 1 Moded Syndrome Type 1 Microcephaly-Digital Anomalies-Normal Intelligence Syndrome Type 1 Microcephaly-Intellectual Disability-Tracheoesophageal Fistula Syndrome Type 1 Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome Syndrome Type 1 Oded Syndrome Type 1 Oculo-Digito-Esophageal-Duodenal Syndrome Type 1 Feingold Syndrome, Type 1
Intestinal Atresia
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Familial Intestinal Polyatresia Syndrome Fipa Gastrointestinal Defects And Immunodeficiency Syndrome Multiple Gastrointestinal Atresias Familial Isolated Pituitary Adenoma Intestinal Atresia, Multiple Multiple Intestinal Atresia GIDID1 Multiple Intestinal Atresia And/Or Inflammatory Bowel Disease With Or Without Immunodeficiency Minat Gidid Meddra:10028210 Familial Isolated Pituitary Adenoma Syndrome Intestinal Atresia Multiple Combined Immunodeficiency-Enteropathy Spectrum Cid-Mia/Early-Onset Ibd Intestinal Atresia, Multiple And/Or Inflammatory Bowel Disease With Or Without Immunodeficiency Mia Gastrointestinal Defect And Immunodeficiency Syndrome Pituitary Adenoma Predisposition Pituitary Adenoma, Familial Isolated
Pallister-Hall Syndrome	PHS Hypothalamic Hamartomas Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, And Postaxial Polydactyly Hypothalamic Hamartoblastoma Syndrome Hamartoma Of The Hypothalamus Pallister Hall Syndrome Hall-Pallister Syndrome Hypothalamic Hamartoblastoma Hypopituitarism Imperforate Anus And Postaxial Polydactyly Hamartoma, Hypothalamic
Anus Disease	Anal Fissure Ulcer Of Anus Anus Diseases Anal Disease Anal Fissure And Fistula Anal Ulcer Fissure In Ano Nontraumatic Tear Of Anus Solitary Anal Ulcer Abnormality Of The Anus Anal Disorders Ulcer Of Anus And Rectum Solitary Ulcer Of Anus Stercoral Ulcer Of Anus
Duodenal Atresia	Duodenal Stenosis Familial Duodenal Atresia
Esophageal Atresia	Tracheoesophageal Fistula Congenital Atresia Of Esophagus Congenital Imperforate Esophagus Imperforate Esophagus Oesophageal Atresia Te Fistula Tef Tracheoesophageal Fistula With Or Without Esophageal Atresia

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08780	MTHFSD Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	MTHFSD	VGNC	VGNC:31732
Mus musculus	MTHFSD	MGD	MGI:2679252
Felis catus	MTHFSD	VGNC	VGNC:63650
Canis familiaris	MTHFSD	VGNC	VGNC:43474
Rattus norvegicus	MTHFSD	RGD	RGD:1584226
Macaca mulatta	MTHFSD	VGNC	VGNC:75023
Others	MTHFSD	NCBI