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- DKFZp779N1935
- PRO0883
- PRO1341
- albumin
- Serum albumin precursor (PRO0903) (UNQ696/PRO1341).
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Albumin is a soluble, monomeric protein which comprises about one-half of the
blood serum protein. Albumin functions primarily as a carrier protein for steroids, fatty
acids, and thyroid hormones and plays a role in stabilizing extracellular fluid volume.
Mutations in this gene on chromosome 4 result in various anomalous proteins. Albumin is a
globular unglycosylated serum protein of molecular weight 65,000. The human albumin gene
is 16,961 nucleotides long from the putative 'cap' site to the first poly(A) addition
site. It is split into 15 exons which are symmetrically placed within the 3 domains that
are thought to have arisen by triplication of a single primordial domain. Albumin is
synthesized in the liver as preproalbumin which has an N-terminal peptide that is removed
before the nascent protein is released from the rough endoplasmic reticulum. The product,
proalbumin, is in turn cleaved in the Golgi vesicles to produce the secreted albumin.
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- Location: 4q11-q13
- Orientation: plus strand
- Size: 17127 bp
- 15 exons
- DNA sequence (Human): NC_000004
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- Mutations and SNPs (According
to HGMD and SNP)
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- HGMD (Human Gene Mutation Database): ALB
- SNPs: ALB
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