DISEASES

Disease-gene associations mined from literature

Literature associating PEX5L and rhizomelic chondrodysplasia punctata type 5

PEX5L [ENSP00000419975]

Tetratricopeptide repeat-containing Rab8b-interacting protein; Accessory subunit of hyperpolarization-activated cyclic nucleotide-gated (HCN) channels, regulating their cell-surface expression and cyclic nucleotide dependence; Belongs to the peroxisomal targeting signal receptor family.

Synonyms:  PEX5L,  PEX5Lp,  hPEX5L,  C9IZ09,  C9JB85 ...

Linkouts:  STRING  Pharos  UniProt  OMIM