MTHFSD Products

Description

The MTHFSD gene encodes a methenyltetrahydrofolate synthase domain-containing protein that exists in four isoforms: isoform 1 is 383 amino acids long at 42 kDA, isoform 2 is 382 amino acids long at 42 kDA, isoform 3 is 383 amino acids long at 42 kDA, and isoform 4 is 382 amino acids long at 41 kDA. This gene interacts with the TP53, TP63, TP73, SIN3A, and ACTR1A genes. MTHFSD has been linked to vacterl association and esophageal atresia.

Bioinformatics

Entrez	64779 Human
Uniprot	NP_073601 Human
Product By Gene ID	64779
Alternate Names	FLJ12998 FLJ13893 methenyltetrahydrofolate synthase domain-containing protein methenyltetrahydrofolate synthetase domain containing methenyltetrahydrofolate synthetase domain-containing protein MGC138262 MGC138264 MGC177233

Diseases related to MTHFSD

Discover more about diseases related to MTHFSD.

Limb Deformities, Congenital
Dysplasia
Vacterl Association
Anus, Imperforate
Congenital Abnormality
Tracheoesophageal Fistula
Atresia
Pathologic Fistula
Esophageal Atresia

Bioinformatics Tool for MTHFSD

Discover related pathways, diseases and genes to MTHFSD. Need help? Read the Bioinformatics Tool Guide for instructions on using this tool.