SLC25A32
entrez
81034
canonical
uniprot
Q9H2D1
canonical
ensembl
ENSG00000164933
resolver
ensp
ENSP00000297578
resolver
enst
ENST00000297578
resolver
genesymbol
SLC25A32
resolver
genesymbol_syn
MFT
resolver
genesymbol_syn
MFTC
resolver
hgnc
HGNC:29683
resolver
uniprot
A0A024R9D0
resolver
uniprot
Q96JZ6
resolver
uniprot
Q96SU7
resolver
uniprot_entry
S2532_HUMAN
resolver
uniprot_sec
A0A024R9D0
resolver
uniprot_sec
Q96JZ6
resolver
uniprot_sec
Q96SU7
resolver
amino_acid_sequence
MTGQGQSASGSSAWSTVFRHVRYENLIAGVSGGVLSNLALHPLDLVKIRFAVSDGLELRPKYNGILHCLTTIWKLDGLRGLYQGVTPNIWGAGLSWGLYFFFYNAIKSYKTEGRAERLEATEYLVSAAEAGAMTLCITNPLWVTKTRLMLQYDAVVNSPHRQYKGMFDTLVKIYKYEGVRGLYKGFVPGLFGTSHGALQFMAYELLKLKYNQHINRLPEAQLSTVEYISVAALSKIFAVAATYPYQVVRARLQDQHMFYSGVIDVITKTWRKEGVGGFYKGIAPNLIRVTPACCITFVVYENVSHFLLDLREKRK
uniprot
proteins
disease_involvement
DISEASE: Exercise intolerance, riboflavin-responsive (RREI) [MIM:616839]: 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. {ECO:0000269|PubMed:26933868, ECO:0000269|PubMed:35727412}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Neural tube defects (NTD) [MIM:182940]: 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. {ECO:0000269|PubMed:29666258}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Facilitates flavin adenine dinucleotide (FAD) translocation across the mitochondrial inner membrane into the mitochondrial matrix where it acts as a redox cofactor to assist flavoenzyme activities in fundamental metabolic processes including fatty acid beta-oxidation, amino acid and choline metabolism as well as mitochondrial electron transportation. In particular, provides FAD to DLD dehydrogenase of the glycine cleavage system, part of mitochondrial one-carbon metabolic pathway involved in neural tube closure in early embryogenesis. {ECO:0000269|PubMed:16165386, ECO:0000269|PubMed:29666258, ECO:0000269|PubMed:35727412}.
uniprot
proteins
mass_dalton
35407
uniprot
proteins
protein_family
Mitochondrial carrier (TC 2.A.29) family
uniprot
proteins
pubmed
10978331
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15140890
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16165386
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26933868
uniprot
proteins
pubmed
29666258
uniprot
proteins
pubmed
35727412
uniprot
proteins
sequence_length
315
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000305|PubMed:29666258}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 26..43; /note="Helical; Name=1"; /evidence="ECO:0000255"; TRANSMEM 89..106; /note="Helical; Name=2"; /evidence="ECO:0000255"; TRANSMEM 123..143; /note="Helical; Name=3"; /evidence="ECO:0000255"; TRANSMEM 186..203; /note="Helical; Name=4"; /evidence="ECO:0000255"; TRANSMEM 227..243; /note="Helical; Name=5"; /evidence="ECO:0000255"; TRANSMEM 281..300; /note="Helical; Name=6"; /evidence="ECO:0000255
uniprot
proteins