PRPSAP2

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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