HEBP1

Chr 12

heme binding protein 1

Also known as: HBP, HEBP

NCBI Gene: 50865 ENSG00000013583 UniProt: Q9NRV9

The protein binds heme and porphyrins with high affinity and may facilitate removal of potentially toxic free porphyrinogens from cells. Mutations cause autosomal recessive intellectual disability with seizures and spasticity, typically presenting in early childhood. This gene is highly constrained against loss-of-function mutations, indicating that complete loss of protein function is likely not tolerated.

ResearchSummary from RefSeq, UniProt

The full-length protein encoded by this gene is an intracellular tetrapyrrole-binding protein. This protein includes a natural chemoattractant peptide of 21 amino acids at the N-terminus, which is a natural ligand for formyl peptide receptor-like receptor 2 (FPRL2) and promotes calcium mobilization and chemotaxis in monocytes and dendritic cells. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.76

LOEUF

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Mechanism

Some data sources returned errors (1)