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- Table of Contents
Facts about C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8.
Human | |
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Gene Name: | CPAMD8 |
Uniprot: | Q8IZJ3 |
Entrez: | 27151 |
Belongs to: |
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protease inhibitor I39 (alpha-2-macroglobulin) family |
alpha-2 macroglobulin family protein VIP; C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8; C3 and PZP-like, alpha-2-macroglobulin domain containing 8; FLJ42058; FLJ90618; K-CAP; KIAA1283; VIP
Mass (kDA):
206.702 kDA
Human | |
---|---|
Location: | 19p13.11 |
Sequence: | 19; NC_000019.10 (16892951..17026818, complement) |
Highly expressed in the kidney, brain and testis and to a lower extent in heart, liver and small intestine (PubMed:15177561). Expressed in the lens, cornea and retina. Strongly expressed in the distal tips of the retinal neuroepithelium that form the iris and ciliary body (PubMed:27839872).
Secreted. Cell membrane; Peripheral membrane protein; Extracellular side.
PMID: 15177561 by Li Z.-F., et al. Identification and characterization of CPAMD8, a novel member of the complement 3/alpha2-macroglobulin family with a C-terminal Kazal domain.
PMID: 27839872 by Cheong S.S., et al. Mutations in CPAMD8 cause a unique form of autosomal-recessive anterior segment dysgenesis.