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protein

Isoform 7 of Aspartyl/asparaginyl beta-hydroxylase

ASPH
protein:Q12797-7disease:adad:direction:down

Gene

ASPH

Organism

Homo sapiens(9606)

Length

203 aa

Mass

21,963 Da

AI summarysource-grounded · cited inline
claude-haiku-4-5-20251001

Aspartyl/asparaginyl beta-hydroxylase (ASPH), isoform 7, is a 203-amino-acid protein encoded by the *ASPH* gene in humans (UniProt: Q12797-7). This enzyme catalyzes post-translational hydroxylation of aspartyl and asparaginyl residues in target proteins, a modification important for protein folding and stability in the endoplasmic reticulum and secretory pathway.

ASPH is broadly distributed across tissues and participates in protein quality control mechanisms. While UniProt records no specific disease associations for this isoform, the protein has been implicated in various cellular processes related to protein maturation and secretion.

In Alzheimer's disease, ASPH isoform 7 shows reduced expression in post-mortem AD brain relative to age-matched controls, with a mean log2 fold-change of −0.44 across analyzed subcellular fractions (Chaparral AD proteomics). This modest downregulation suggests a potential role in the pathophysiology of neurodegeneration, though the functional significance of reduced ASPH levels in AD remains to be elucidated.

Generated from the curated entity record below. May contain errors — verify against source links.

Proteomics Evidence · AD

↓ Down in AD

P3

not detected

P2

not detected

S2

not detected

S3

-0.442

Mean log₂FC across detected fractions: -0.4422 (1 of 4 fractions detected)

Human post-mortem AD brain vs age-matched controls, TMT-labeled, 4 subcellular fractions (P2, P3, S2, S3), DDA proteomics.

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Last updated 5/8/2026, 6:29:14 AM