FTHL17 (ferritin heavy chain like 17)

2021-06-01  

Identity

HGNC
LOCATION
Xp21.2
LOCUSID
ALIAS
CT38

Other Information

Locus ID:

NCBI: 53940
MIM: 300308
HGNC: 3987
Ensembl: ENSG00000132446

Variants:

dbSNP: 53940
ClinVar: 53940
TCGA: ENSG00000132446
COSMIC: FTHL17

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000132446ENST00000359202Q9BXU8
ENSG00000132446ENST00000359202A0A384NPV7

Expression (GTEx)

0
1
2
3
4
5
6
7
8

References

Pubmed IDYearTitleCitations
257495652015The Ferritin-Heavy-Polypeptide-Like-17 (FTHL17) gene encodes a ferritin with low stability and no ferroxidase activity and with a partial nuclear localization.5
309226532019Novel mutation in FTHL17 gene in pedigree with 46,XY pure gonadal dysgenesis.0

Citation

Dessen P

FTHL17 (ferritin heavy chain like 17)

Atlas Genet Cytogenet Oncol Haematol. 2021-06-01

Online version: http://atlasgeneticsoncology.org/gene/58364/fthl17