SBDS pseudogene 1 (SBDSP1) (SBDSP1)

SBDS pseudogene 1 (SBDSP1) is a non-functional copy of the chromosome 7 SBDS gene, sharing approximately 97% nucleotide sequence identity. SBDSP1 itself does not produce protein or have direct cellular functions. Its primary clinical relevance stems from gene conversion events with SBDS, which commonly result in pathogenic mutations leading to Shwachman-Diamond syndrome (SDS). These gene conversions account for most disease-causing SBDS mutations in SDS patients, complicating genetic diagnosis due to the pseudogene’s near-identical sequence. SBDSP1 is not a drug target, receptor, enzyme, or transporter and is not involved in molecular signaling, biological processes, or therapeutic interventions. SBDS (the *functional* gene) is a ribosome maturation factor with critical biological roles and is implicated in Shwachman-Diamond syndrome due to loss-of-function mutations. SBDSP1 (*the pseudogene*) is nearly identical at the sequence level but does not produce a functional protein and is not a therapeutic target.

Other names

SBDSPSBDS pseudogene 1ribosome assembly guanine nucleotide exchange factor pseudogene 1ribosome maturation factor pseudogene 1Shwachman-Bodian-Diamond syndrome pseudogene 1

None. SBDSP1 is not a therapeutic target; however, gene conversion with SBDSP1 leads to mutations in SBDS that cause Shwachman-Diamond syndrome