HJV

The product of this gene is involved in iron metabolism. It may be a component of the signaling pathway which activates hepcidin or it may act as a modulator of hepcidin expression. It could also represent the cellular receptor for hepcidin. Two uORFs in the 5' UTR negatively regulate the expression and activity of the encoded protein. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Defects in this gene are the cause of hemochromatosis type 2A, also called juvenile hemochromatosis (JH). JH is an early-onset autosomal recessive disorder due to severe iron overload resulting in hypogonadotrophic hypogonadism, hepatic fibrosis or cirrhosis and cardiomyopathy, occurring typically before age of 30. [provided by RefSeq, Oct 2015]

Description

Hemojuvelin BMP co-receptor

Tissue specificity

Group enriched (liver, skeletal muscle, tongue)

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Predicted membrane proteins

Chromosome

1 (146017468 - 146036746)

Ensembl ID

ENSG00000168509  (ver. 103.38)

Orthologs

Mouse Hjv: ENSMUSG00000038403

UniProt

Q6ZVN8

neXtProt

NX_Q6ZVN8

Human splice variants
Mouse splice variants

Protein structure