| Entry |
|
|---|
| Gene name |
FTL, NBIA3
|
|---|
| Definition |
ferritin, light polypeptide
|
|---|
| Orthology |
|
|---|
| Organism |
|
|---|
| Pathway |
| Porphyrin and chlorophyll metabolism | | Mineral absorption |
|
|---|
| Disease |
| Neurodegeneration with brain iron accumulation (NBIA) | | Cataract |
|
|---|
| Class |
Metabolism; Metabolism of cofactors and vitamins; Porphyrin and chlorophyll metabolism [PATH: hsa00860]
Organismal Systems; Digestive system; Mineral absorption [PATH: hsa04978]
 |
|---|
| SSDB |
   |
|---|
| Motif |
 |
|---|
| Other DBs |
NCBI-GI: NCBI-GeneID: OMIM: HGNC: HPRD: Ensembl: Vega: UniProt: |
|---|
| Structure |
PDB: |
|---|
| Position |
19q13.33
|
|---|
| AA seq |
175 aa  
MSSQIRQNYSTDVEAAVNSLVNLYLQASYTYLSLGFYFDRDDVALEGVSHFFRELAEEKR
EGYERLLKMQNQRGGRALFQDIKKPAEDEWGKTPDAMKAAMALEKKLNQALLDLHALGSA
RTDPHLCDFLETHFLDEEVKLIKKMGDHLTNLHRLGGPEAGLGEYLFERLTLKHD |
|---|
| NT seq |
528 nt  +upstreamnt +downstreamnt
atgagctcccagattcgtcagaattattccaccgacgtggaggcagccgtcaacagcctg
gtcaatttgtacctgcaggcctcctacacctacctctctctgggcttctatttcgaccgc
gatgatgtggctctggaaggcgtgagccacttcttccgcgaattggccgaggagaagcgc
gagggctacgagcgtctcctgaagatgcaaaaccagcgtggcggccgcgctctcttccag
gacatcaagaagccagctgaagatgagtggggtaaaaccccagacgccatgaaagctgcc
atggccctggagaaaaagctgaaccaggcccttttggatcttcatgccctgggttctgcc
cgcacggacccccatctctgtgacttcctggagactcacttcctagatgaggaagtgaag
cttatcaagaagatgggtgaccacctgaccaacctccacaggctgggtggcccggaggct
gggctgggcgagtatctcttcgaaaggctcactctcaagcacgactaa |
|---|
