homolog is a protein that in humans is encoded by the LMBR1 gene. This gene encodes a member of the LMBR1-like membrane protein family. Another member of this...
7 KB (953 words) - 23:54, 3 April 2024
polydactyly. Several genetic mechanisms can cause rear dewclaws; they involve the LMBR1 gene and related parts of the genome. Rear dewclaws often have no phalanx...
11 KB (1,337 words) - 08:06, 12 July 2024
substitution of A to G in position 404–406, located on intron 5 in the LMBR1 gene. RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Tibial hemimelia polysyndactyly...
3 KB (199 words) - 12:42, 15 February 2024
preaxial polydactyly is LMBR1, encoding a novel transmembrane receptor, which may be an upstream regulator of SHH. The LMBR1 gene is on human chromosome...
4 KB (323 words) - 21:57, 17 June 2024
the Norwegian Lundehund and Great Pyrenees. A number of mutations of the LMBR1 gene, in dogs, humans, and mice, can cause polydactyly. A 2014 report indicated...
62 KB (7,065 words) - 08:27, 13 October 2024
syndrome Aceruloplasminemia CP (3p26.3) recessive 1:2,000,000 Acheiropodia LMBR1 recessive Achondrogenesis type II COL2A1 (12q13.11) dominant 1:40,000-60...
42 KB (983 words) - 18:14, 6 October 2024
Cai L, Yuan H, Chen X, et al. (September 2020). "Large duplication in LMBR1 gene in a large Chinese pedigree with triphalangeal thumb polysyndactyly...
15 KB (1,644 words) - 10:06, 17 September 2023
Q9HAT1 8775 LMAN2 HGNC:16986 Q12907 8776 LMAN2L HGNC:19263 Q9H0V9 8777 LMBR1 HGNC:13243 Q8WVP7 8778 LMBR1L HGNC:18268 Q6UX01 8779 LMBRD1 HGNC:23038 Q9NUN5...
277 KB (17 words) - 18:41, 6 October 2024
non-functional protein. The C7rof2 gene is the human equivalent of the mouse gene LMBR1, which encodes an essential protein for limb development. When there is...
13 KB (1,243 words) - 12:52, 20 October 2024
which functions as an ER retention signal. TMEM155 interacts with LMBR1 and TMEM259. LMBR1 is a known lipocalin transmembrane receptor. TMEM259 is another...
18 KB (1,208 words) - 00:44, 17 October 2024