HEXB

HEXB
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 1NOU, 1NOW, 1NP0, 1O7A, 2GJX, 2GK1, 3LMY, 5BRO
Dynodwyr
Cyfenwau	HEXB, ENC-1AS, HEL-248, HEL-S-111, hexosaminidase subunit beta
Dynodwyr allanol	OMIM: 606873 HomoloGene: 437 GeneCards: HEXB
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • acetylglucosaminyltransferase activity • hydrolase activity, hydrolyzing O-glycosyl compounds • protein homodimerization activity • hydrolase activity, acting on glycosyl bonds • beta-N-acetylhexosaminidase activity • protein heterodimerization activity • hydrolase activity • N-acetyl-beta-D-galactosaminidase activity • GO:0001948, GO:0016582 protein binding Cydrannau o'r gell • bilen • azurophil granule • acrosomal vesicle • lysosomal lumen • lysosome • extracellular exosome • extracellular region • extracellular space • azurophil granule lumen Prosesau biolegol • skeletal system development • hyaluronan catabolic process • sexual reproduction • glycosphingolipid metabolic process • locomotory behavior • neuromuscular process controlling balance • astrocyte cell migration • lipid storage • cellular calcium ion homeostasis • sensory perception of sound • regulation of cellular metabolic process • single fertilization • oogenesis • neuromuscular process • male courtship behavior • keratan sulfate catabolic process • regulation of cell shape • phospholipid biosynthetic process • chondroitin sulfate catabolic process • myelination • oligosaccharide catabolic process • metabolaeth • lysosome organization • penetration of zona pellucida • ganglioside catabolic process • GO:0003257, GO:0010735, GO:1901228, GO:1900622, GO:1904488 positive regulation of transcription by RNA polymerase II • glycosaminoglycan metabolic process • neutrophil degranulation • carbohydrate metabolic process Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	3074	n/a
Ensembl	ENSG00000049860	n/a
UniProt	P07686	n/a
RefSeq (mRNA)	NM_001292004 NM_000521	n/a
RefSeq (protein)	NP_000512 NP_001278933	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 HEXB yw HEXB a elwir hefyd yn Beta-hexosaminidase subunit beta a Hexosaminidase subunit beta (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn blaen o gromosom dynol 5, band 5q13.3.

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 HEXB.

• ENC-1AS
• HEL-248
• HEL-S-111

Llyfryddiaeth

• "Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: emphasizing the role of consanguinity. ". J Pediatr Endocrinol Metab. 2016. PMID 27682710.
• "Clinical, biochemical and mutation profile in Indian patients with Sandhoff disease. ". J Hum Genet. 2016. PMID 26582265.
• "Incidence and carrier frequency of Sandhoff disease in Saskatchewan determined using a novel substrate with detection by tandem mass spectrometry and molecular genetic analysis. ". Mol Genet Metab. 2014. PMID 24461908.
• "N-acetyl-β-hexosaminidase in chronic tonsillitis and tonsillar hypertrophy. ". Otolaryngol Pol. 2013. PMID 23911049.
• "Microheterogeneity of serum β-hexosaminidase in chronic alcohol abusers in a driver's license regranting program.". Alcohol Clin Exp Res. 2013. PMID 23906468.