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Symbol report for TGFB1

Stable symbol

HGNC data for TGFB1

Approved symbol
TGFB1
Approved name

transforming growth factor beta 1

Locus type
gene with protein product
HGNC ID
HGNC:11766
Symbol status
Approved
Previous symbols
TGFB
DPD1
Previous names
transforming growth factor, beta 1
Alias symbols
CED
TGFbeta
Alias names
Camurati-Engelmann disease
prepro-transforming growth factor beta-1
Diaphyseal dysplasia 1, progressive
Chromosomal location
19q13.2
Bos taurus
TGFB1 VGNC:35800 VGNC
Equus caballus
TGFB1 VGNC:24051 VGNC
Felis catus
TGFB1 VGNC:66131 VGNC
Macaca mulatta
TGFB1 VGNC:78332 VGNC
Mus musculus
Tgfb1 MGI:98725 Curated
Pan troglodytes
TGFB1 VGNC:2232 VGNC
Rattus norvegicus
Tgfb1 RGD:69051
Sus scrofa
TGFB1 VGNC:98656 VGNC
IUPHAR/BPS Guide to PHARMACOLOGY
Confirmation of the mapping of the Camurati-Englemann locus to 19q13. 2 and refinement to a 3.2-cM region.
Vaughn SP et al. Genomics 2000 May;66(1)119-121
Vaughn SP, Broussard S, Hall CR, Scott A, Blanton SH, Milunsky JM, Hecht JT.
Genomics 2000 May;66(1)119-121
Abstract: Camurati-Englemann syndrome (DPD1) is an autosomal dominant condition associated with progressive cortical sclerosis of the diaphyses of all the long bones. Clinical features include abnormal gait, muscle weakness and wasting, and generalized fatigue. The DPD1 gene was recently mapped to a 15.1-cM region on chromosome 19q13.2. We have narrowed the region containing the DPD1 gene to a 3.2-cM region flanked by short tandem repeat markers, D19S881 and D19S718. TGFB1, a candidate gene mapped within this region, was excluded.
Genetic mapping of the Camurati-Engelmann disease locus to chromosome 19q13.1-q13.3.
Ghadami M et al. Am J Hum Genet 2000 Jan;66(1)143-147
Ghadami M, Makita Y, Yoshida K, Nishimura G, Fukushima Y, Wakui K, Ikegawa S, Yamada K, Kondo S, Niikawa N, Tomita Ha.
Am J Hum Genet 2000 Jan;66(1)143-147
Abstract: Camurati-Engelmann disease (CED [MIM 131300]), or progressive diaphyseal dysplasia, is an autosomal dominant sclerosing bone dysplasia characterized by progressive bone formation along the periosteal and endosteal surfaces at the diaphyseal and metaphyseal regions of long bones and cranial hyperostosis, particularly at the skull base. The gene for CED, or its chromosomal localization, has not yet been identified. We performed a genomewide linkage analysis of two unrelated Japanese families with CED, in which a total of 27 members were available for this study; 16 of them were affected with the disease. Two-point linkage analysis revealed a maximum LOD score of 7.41 (recombination fraction.00; penetrance 1.00) for the D19S918 microsatellite marker locus. Haplotype analysis revealed that all the affected individuals shared a common haplotype observed, in each family, between D19S881 and D19S606, at chromosome 19q13.1-q13.3. These findings, together with a genetic distance among the marker loci, indicate that the CED locus can be assigned to a 15.1-cM segment between D19S881 and D19S606.