Disease-gene associations mined from literature

Literature associating ABCB9 and congenital bile acid synthesis defect 5

ABCB9 [ENSP00000440288]

ATP-binding cassette, sub-family B (MDR/TAP), member 9; ATP-dependent low-affinity peptide transporter which translocates a broad spectrum of peptides from the cytosol to the lysosomal lumen. Displays a broad peptide length specificity from 6-mer up to at least 59-mer peptides with an optimum of 23-mers. Favors positively charged, aromatic or hydrophobic residues in the N- and C-terminal positions whereas negatively charged residues as well as asparagine and methionine are not favored; Belongs to the ABC transporter superfamily. ABCB family. MHC peptide exporter (TC 3.A.1.209) subfamily.

Synonyms:  ABCB9,  ABCB9p,  hABCB9,  A0A024RBU1,  F5GX86 ...

Linkouts:  STRING  Pharos  UniProt