COL4A1

Collagen, type IV, alpha 1, also known as COL4A1, is a human gene. [cite web | title = Entrez Gene: COL4A1 collagen, type IV, alpha 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1282| accessdate = ]

PBB_Summary
section_title =
summary_text = This gene encodes the major type IV alpha collagen chain of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter.cite web | title = Entrez Gene: COL4A1 collagen, type IV, alpha 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1282| accessdate = ]

Mutations in "COL4A1" exons 24 and 25 are associated with HANAC (autosomal dominant hereditary angiopathy with nephropathy, aneurysms, and muscle cramps). [cite journal|author=Plaisier E, Gribouval O, Alamowitch S "et al"|title=COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps|journal=N. Engl. J. Med.|year=2007|volume=357|pages=2687–2695|url=http://content.nejm.org/cgi/content/short/357/26/2687|doi=10.1056/NEJMoa071906]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Tryggvason K, Soininen R, Hostikka SL, "et al." |title=Structure of the human type IV collagen genes. |journal=Ann. N. Y. Acad. Sci. |volume=580 |issue= |pages= 97–111 |year= 1990 |pmid= 2186699 |doi=
*cite journal | author=Hinek A |title=Nature and the multiple functions of the 67-kD elastin-/laminin binding protein. |journal=Cell Adhes. Commun. |volume=2 |issue= 3 |pages= 185–93 |year= 1995 |pmid= 7827955 |doi=
*cite journal | author=Ständer M, Naumann U, Wick W, Weller M |title=Transforming growth factor-beta and p-21: multiple molecular targets of decorin-mediated suppression of neoplastic growth. |journal=Cell Tissue Res. |volume=296 |issue= 2 |pages= 221–7 |year= 1999 |pmid= 10382266 |doi=
*cite journal | author=Kurpakus Wheater M, Kernacki KA, Hazlett LD |title=Corneal cell proteins and ocular surface pathology. |journal=Biotechnic & histochemistry : official publication of the Biological Stain Commission |volume=74 |issue= 3 |pages= 146–59 |year= 1999 |pmid= 10416788 |doi=
*cite journal | author=Ghebrehiwet B, Peerschke EI, Hong Y, "et al." |title=Short amino acid sequences derived from C1q receptor (C1q-R) show homology with the alpha chains of fibronectin and vitronectin receptors and collagen type IV. |journal=J. Leukoc. Biol. |volume=51 |issue= 6 |pages= 546–56 |year= 1992 |pmid= 1377218 |doi=
*cite journal | author=Gupta S, Batchu RB, Datta K |title=Purification, partial characterization of rat kidney hyaluronic acid binding protein and its localization on the cell surface. |journal=Eur. J. Cell Biol. |volume=56 |issue= 1 |pages= 58–67 |year= 1992 |pmid= 1724753 |doi=
*cite journal | author=Paralkar VM, Nandedkar AK, Pointer RH, "et al." |title=Interaction of osteogenin, a heparin binding bone morphogenetic protein, with type IV collagen. |journal=J. Biol. Chem. |volume=265 |issue= 28 |pages= 17281–4 |year= 1990 |pmid= 2211625 |doi=
*cite journal | author=Hernandez MR, Igoe F, Neufeld AH |title=Extracellular matrix of the human optic nerve head. |journal=Am. J. Ophthalmol. |volume=102 |issue= 2 |pages= 139–48 |year= 1986 |pmid= 2426947 |doi=
*cite journal | author=Aumailley M, Wiedemann H, Mann K, Timpl R |title=Binding of nidogen and the laminin-nidogen complex to basement membrane collagen type IV. |journal=Eur. J. Biochem. |volume=184 |issue= 1 |pages= 241–8 |year= 1989 |pmid= 2506015 |doi=
*cite journal | author=Pihlajaniemi T, Tryggvason K, Myers JC, "et al." |title=cDNA clones coding for the pro-alpha1(IV) chain of human type IV procollagen reveal an unusual homology of amino acid sequences in two halves of the carboxyl-terminal domain. |journal=J. Biol. Chem. |volume=260 |issue= 12 |pages= 7681–7 |year= 1985 |pmid= 2581969 |doi=
*cite journal | author=Brinker JM, Gudas LJ, Loidl HR, "et al." |title=Restricted homology between human alpha 1 type IV and other procollagen chains. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=82 |issue= 11 |pages= 3649–53 |year= 1985 |pmid= 2582422 |doi=
*cite journal | author=Soininen R, Huotari M, Ganguly A, "et al." |title=Structural organization of the gene for the alpha 1 chain of human type IV collagen. |journal=J. Biol. Chem. |volume=264 |issue= 23 |pages= 13565–71 |year= 1989 |pmid= 2701944 |doi=
*cite journal | author=Siebold B, Deutzmann R, Kühn K |title=The arrangement of intra- and intermolecular disulfide bonds in the carboxyterminal, non-collagenous aggregation and cross-linking domain of basement-membrane type IV collagen. |journal=Eur. J. Biochem. |volume=176 |issue= 3 |pages= 617–24 |year= 1988 |pmid= 2844531 |doi=
*cite journal | author=Pöschl E, Pollner R, Kühn K |title=The genes for the alpha 1(IV) and alpha 2(IV) chains of human basement membrane collagen type IV are arranged head-to-head and separated by a bidirectional promoter of unique structure. |journal=EMBO J. |volume=7 |issue= 9 |pages= 2687–95 |year= 1988 |pmid= 2846280 |doi=
*cite journal | author=Bowcock AM, Hebert JM, Christiano AM, "et al." |title=The pro alpha 1 (IV) collagen gene is linked to the D13S3 locus at the distal end of human chromosome 13q. |journal=Cytogenet. Cell Genet. |volume=45 |issue= 3-4 |pages= 234–6 |year= 1988 |pmid= 2891465 |doi=
*cite journal | author=Solomon E, Hiorns LR, Spurr N, "et al." |title=Chromosomal assignments of the genes coding for human types II, III, and IV collagen: a dispersed gene family. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=82 |issue= 10 |pages= 3330–4 |year= 1985 |pmid= 2987919 |doi=
*cite journal | author=Soininen R, Huotari M, Hostikka SL, "et al." |title=The structural genes for alpha 1 and alpha 2 chains of human type IV collagen are divergently encoded on opposite DNA strands and have an overlapping promoter region. |journal=J. Biol. Chem. |volume=263 |issue= 33 |pages= 17217–20 |year= 1988 |pmid= 3182844 |doi=
*cite journal | author=Brazel D, Oberbäumer I, Dieringer H, "et al." |title=Completion of the amino acid sequence of the alpha 1 chain of human basement membrane collagen (type IV) reveals 21 non-triplet interruptions located within the collagenous domain. |journal=Eur. J. Biochem. |volume=168 |issue= 3 |pages= 529–36 |year= 1987 |pmid= 3311751 |doi=
*cite journal | author=Soininen R, Haka-Risku T, Prockop DJ, Tryggvason K |title=Complete primary structure of the alpha 1-chain of human basement membrane (type IV) collagen. |journal=FEBS Lett. |volume=225 |issue= 1-2 |pages= 188–94 |year= 1988 |pmid= 3691802 |doi=

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