PTHLH

PTHLH
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 3H3G, 1BZG, 1M5N, 3FFD
Dynodwyr
Cyfenwau	PTHLH, BDE2, HHM, PLP, PTHR, PTHRP, parathyroid hormone-like hormone, parathyroid hormone like hormone
Dynodwyr allanol	OMIM: 168470 HomoloGene: 2113 GeneCards: PTHLH
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • peptide hormone receptor binding • hormone activity • GO:0001948, GO:0016582 protein binding Cydrannau o'r gell • extracellular region • cnewyllyn cell • Golgi apparatus • nucleoplasm • extracellular space • cytoplasm • cytosol Prosesau biolegol • regulation of gene expression • skeletal system development • osteoblast development • cell-cell signaling • female pregnancy • negative regulation of chondrocyte differentiation • adenylate cyclase-activating G protein-coupled receptor signaling pathway • cAMP metabolic process • positive regulation of cell population proliferation • negative regulation of cell population proliferation • epidermis development • regulation of signaling receptor activity • G protein-coupled receptor signaling pathway • bone mineralization • negative regulation of chondrocyte development Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	5744	n/a
Ensembl	ENSG00000087494	n/a
UniProt	P12272	n/a
RefSeq (mRNA)	NM_002820 NM_198964 NM_198965 NM_198966	n/a
RefSeq (protein)	NP_002811 NP_945315 NP_945316 NP_945317	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn PTHLH yw PTHLH a elwir hefyd yn Parathyroid hormone like hormone (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn ôl o gromosom dynol 12, band 12p11.22.

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn PTHLH.

• HHM
• PLP
• BDE2
• PTHR
• PTHRP

Llyfryddiaeth

• "Lung carcinoma progression and survival versus amino- and carboxyl-parathyroid hormone-related protein expression. ". J Cancer Res Clin Oncol. 2017. PMID 28342003.
• "The p.R56* mutation in PTHLH causes variable brachydactyly type E. ". Am J Med Genet A. 2017. PMID 28211986.
• "Failure of tooth eruption and brachydactyly in pseudohypoparathyroidism are not related to plasma parathyroid hormone-related protein levels. ". Bone. 2016. PMID 26855372.
• "Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene. ". J Hum Genet. 2016. PMID 26763883.
• "Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia.". Eur J Hum Genet. 2016. PMID 26733284.