PRPSAP2
Description
The PRPSAP2 (phosphoribosyl pyrophosphate synthetase associated protein 2) is a protein-coding gene located on chromosome 17.
Phosphoribosyl pyrophosphate synthetase-associated protein 2 is a protein that in humans is encoded by the PRPSAP2 gene. The enzyme phosphoribosyl pyrophosphate synthetase (PRS) catalyzes the formation of phosphoribosyl pyrophosphate which is a substrate for synthesis of purine and pyrimidine nucleotides, histidine, tryptophan and NAD. PRS exists as a complex with two catalytic subunits and two associated subunits.
PRPSAP2 is also known as PAP41.
Associated Diseases
- skin disorder caused by infection
- acheiropody
- acromesomelic dysplasia 2C, Hunter-Thompson type
- acromesomelic dysplasia 2A
- Fuhrmann syndrome
- tibia, hypoplasia or aplasia of, with polydactyly
- Osebold-Remondini syndrome
- acromesomelic dysplasia 2B
- chromosome 17P13.3, telomeric, duplication syndrome
- syndactyly type 4
- Blount disease
- laurin-Sandrow syndrome
- spondyloepimetaphyseal dysplasia, Missouri type
- Diamond-Blackfan anemia
