GENETIC ENCYCLOPEDIA
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gene: SERPINH1

id871
symbolSERPINH1
organismHomo sapiens
full nameserpin family H member 1
summaryThis gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The encoded protein is localized to the endoplasmic reticulum and plays a role in collagen biosynthesis as a collagen-specific molecular chaperone. Autoantibodies to the encoded protein have been found in patients with rheumatoid arthritis. Expression of this gene may be a marker for cancer, and nucleotide polymorphisms in this gene may be associated with preterm birth caused by preterm premature rupture of membranes. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, May 2011]
variant-disease

NM_001235.4(SERPINH1):c.579G>C (p.Glu193Asp) AND not provided

NM_001235.4(SERPINH1):c.267G>A (p.Thr89=) AND not specified

NM_001235.4(SERPINH1):c.*511G>A AND Osteogenesis Imperfecta, Recessive

NM_001235.3(SERPINH1):c.-191A>G AND Osteogenesis Imperfecta, Recessive

NM_001235.4(SERPINH1):c.-73G>A AND Osteogenesis Imperfecta, Recessive

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