solute carrier family 25 member 32
The information on this page was automatically extracted from online scientific databases.
From NCBI Gene:
This gene encodes a member of the P(I/L)W subfamily of mitochondrial carrier family transport proteins. The encoded protein transports folate across the inner mitochondrial membrane. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2013]
Transports folate across the inner membranes of mitochondria (PubMed:15140890, PubMed:29666258). Can also transport FAD across the mitochondrial inner membrane (PubMed:16165386).
From NCBI Gene:
- Exercise intolerance, riboflavin-responsive
Exercise intolerance, riboflavin-responsive (RREI): A riboflavin-responsive form of exercise intolerance, a condition characterized by failure to maintain an expected level of force during sustained or repeated muscle contraction, resulting in an overwhelming sense of tiredness, lack of energy and feeling of exhaustion. RREI transmission pattern is consistent with autosomal recessive inheritance. [MIM:616839]
Neural tube defects (NTD): Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components. [MIM:182940]