| peroxisomal biogenesis factor 7 | |||||||
|---|---|---|---|---|---|---|---|
| Identifiers | |||||||
| Symbol | PEX7 | ||||||
| NCBI gene | 5191 | ||||||
| HGNC | 8860 | ||||||
| OMIM | 601757 | ||||||
| RefSeq | NM_000288 | ||||||
| UniProt | O00628 | ||||||
| Other data | |||||||
| Locus | Chr. 6 q21-q22.2 | ||||||
| |||||||
Peroxin-7 is a receptor associated with Refsum's disease and rhizomelic chondrodysplasia punctata type 1.
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Refsum disease is an autosomal recessive neurological disease that results in the over-accumulation of phytanic acid in cells and tissues. It is one of several disorders named after Norwegian neurologist Sigvald Bernhard Refsum (1907–1991). Refsum disease typically is adolescent onset and is diagnosed by above average levels of phytanic acid. Humans obtain the necessary phytanic acid primarily through diet. It is still unclear what function phytanic acid plays physiologically in humans, but has been found to regulate fatty acid metabolism in the liver of mice.
XK is a protein found on human red blood cells and other tissues which is responsible for the Kx antigen which helps determine a person's blood type.
Peroxisomal disorders represent a class of medical conditions caused by defects in peroxisome functions. This may be due to defects in single enzymes important for peroxisome function or in peroxins, proteins encoded by PEX genes that are critical for normal peroxisome assembly and biogenesis.
Rhizomelia refers to either a disproportion of the length of the proximal limb, such as the shortened limbs of achondroplasia, or some other disorder of the hip or shoulder.
Rhizomelic chondrodysplasia punctata is a rare developmental brain disorder characterized by systemic shortening of the proximal bones, seizures, recurrent respiratory tract infections and congenital cataracts. The affected individuals have low levels of plasmalogens.
Emopamil binding protein is a protein that in humans is encoded by the EBPgene, located on the X chromosome. The protein is shown to have a high-affinity reception for anti-ischemic drugs, such as Emopamil, resulting in its discovery and given name. EBP has a mass of 27.3 kDa and resembles a σ-receptor that resides in the endoplasmic reticulum of various tissues as an integral membrane protein.
Conradi–Hünermann syndrome is a rare type of chondrodysplasia punctata. It is associated with the EBP gene and affects between one in 100,000 and one in 200,000 babies.
Chondrodysplasia punctata is a clinically and genetically diverse group of rare diseases, first described by Erich Conradi (1882–1968), that share the features of stippled epiphyses and skeletal changes.
Glyceronephosphate O-acyltransferase is an enzyme associated with Rhizomelic chondrodysplasia punctata type 2.
Ribose-phosphate diphosphokinase is an enzyme that converts ribose 5-phosphate into phosphoribosyl pyrophosphate (PRPP). It is classified under EC 2.7.6.1.
N-acetylglucosamine-1-phosphate transferase is a transferase enzyme.
In enzymology, a phytanoyl-CoA dioxygenase (EC 1.14.11.18) is an enzyme that catalyzes the chemical reaction
Peroxisome biogenesis factor 1, also known as PEX1, is a protein which in humans is encoded by the PEX1 gene.
Peroxisomal biogenesis factor 2 is a protein that in humans is encoded by the PEX2 gene.
Peroxisome assembly protein 12 is a protein that in humans is encoded by the PEX12 gene.
Peroxisome assembly factor 2 is a protein that in humans is encoded by the PEX6 gene. PEX6 is an AAA ATPase that localizes to the peroxisome. PEX6 forms a hexamer with PEX1 and is recruited to the membrane by PEX26.
Renal–hepatic–pancreatic dysplasia is an autosomal recessive congenital disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis. It is usually fatal soon after birth.An association with NPHP3 has been described. It was characterized in 1959.
Orofaciodigital syndrome 1 (OFD1), also called Papillon-League and Psaume syndrome, is an X-linked congenital disorder characterized by malformations of the face, oral cavity, and digits with polycystic kidney disease and variable involvement of the central nervous system.
Rapp–Hodgkin syndrome was formerly thought to be a unique autosomal dominant disorder due to a P63 gene mutation. However, it was recently shown to the same disease as Hay–Wells syndrome.
Chondrodysplasia Grebe type is a rare genetic disorder. It is caused by a mutation to the GDF5 gene. This mutation may be inherited in an autosomal recessive pattern.