Gene: SRP54

Alternate names for this Gene: SCN8

Gene Summary:

Gene is located in Chromosome: 14

Location in Chromosome : 14q13.2

Description of this Gene: signal recognition particle 54

Type of Gene: protein-coding

rs799498 in SRP54 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs1555354198 in SRP54 gene and SHWACHMAN-DIAMOND SYNDROME 1 PMID 28972538 2017 Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.