peroxisomal biogenesis factor 7
Identifiers
SymbolPEX7
NCBI gene5191
HGNC8860
OMIM601757
RefSeqNM_000288
UniProtO00628
Other data
LocusChr. 6 q21-q22.2
Search for
StructuresSwiss-model
DomainsInterPro

Peroxin-7 is a receptor associated with Refsum's disease and rhizomelic chondrodysplasia punctata type 1.

See also

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Refsum disease

encoded by the genes PHYH and PEX7, respectively. In at least 90% of cases, Refsum disease is caused by PHYH mutations. PEX7 gene mutations can interrupt

Rhizomelic chondrodysplasia punctata

of respiratory tract This condition is a consequence of mutations in the PEX7 gene, the GNPAT gene (which is located on chromosome 1) or the AGPS gene

Peroxisomal disorder

and lung function.[citation needed] RCDP1 is caused by mutations in the PEX7 gene, which encodes the PTS2 receptor. RCDP1 patients can develop large tissue

Peroxisome

peroxisome lumen. The matrix protein import receptors, the peroxins PEX5 and PEX7, accompany their cargoes (containing a PTS1 or a PTS2 amino acid sequence

Ichthyosis

Autosomal recessive ALDH3A2 Refsum's disease 266500 Autosomal recessive PHYH, PEX7 Mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratoderma

Peroxisomal targeting signal

termini. This PTS2 signal is recognized by the PTS2 receptor, encoded by the PEX7 gene. "PEX" refers to a group of genes that were identified as being important

WD40 repeat

NBEAL1, NEDD1, NLE1, NSMAF, NUP37, NUP43, NWD1, PAAF1, PAFAH1B1, PAK1IP1, PEX7, PHIP, PIK3R4, PLAA, PLRG1, PPP2R2A, PPP2R2B, PPP2R2C, PPP2R2D, PPWD1, PREB

Epigenetic therapy

for autism. While not an exhaustive list a few examples are NLGN4X, PAH, PEX7, and SYNE1. The heterogeneity of autism causes and symptoms has led to research