sábado, 16 de febrero de 2019

Chromosome 1 Genes

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By Ananya Mandal, MDReviewed by Sally Robertson, B.Sc.

Chromosome 1 is the largest of the 23 chromosomes, containing a greater number of nucleotides at its 85 loci than all other chromosomes. There are an estimated 4220 genes on chromosome 1, as discovered during the Human Genome Project around twenty years ago.

The short arm (p) of chromosome 1

The genes present on the short arm of chromosome 1 include:

ACADM coding for acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain
COL11A1 coding for collagen, type XI, alpha 1
CPT2 coding for carnitine palmitoyltransferase II
DBT coding for dihydrolipoamide branched chain transacylase E2
DIRAS3 coding for DIRAS family, GTP-binding RAS-like 3
ESPN coding for espin and deficiency leading to autosomal recessive deafness 36
GALE coding for UDP-galactose-4-epimerase
GJB3 coding for gap junction protein, beta 3, 31kDa (connexin 31)
HMGCL coding for 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase (hydroxymethylglutaricaciduria)
KCNQ4 coding for potassium voltage-gated channel, KQT-like subfamily, member 4
KIF1B coding for kinesin family member 1B
MFN2 coding for mitofusin 2
MTHFR coding for 5,10-methylenetetrahydrofolate reductase (NADPH)
MUTYH coding for mutY homolog (E. coli)
NGF coding for nerve growth factor
PARK7 coding for proteins which in autosomal recessive conditions may lead to early onset Parkinson disease, 7
PINK1 coding for PTEN induced putative kinase 1
PLOD1 coding for procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1
TSHB coding for thyroid stimulating hormone, beta
UROD coding for uroporphyrinogen decarboxylase. This gene mutation is responsible for porphyria cutanea tarda

The long (q) arm of chromosome 1

The genes present on the long arm of chromosome 1 include:

ASPM that determines brain size
F5 coding for coagulation factor V (proaccelerin, labile factor)
FMO3 coding for flavin containing monooxygenase 3
GBA coding for glucosidase beta, glucosylceramidase and a gene whose mutation results in Gaucher's disease
GLC1A or gene responsible for glaucoma
HFE2 or a gene leading to juvenile hemochromatosis type 2
HPC1 coding for a gene that predisposes for prostate cancer
IRF6 that codes for a gene for connective tissue formation
LMNA coding for lamin A/C
MPZ that codes for myelin protein zero (Charcot-Marie-Tooth neuropathy 1B)
MTR coding for 5-methyltetrahydrofolate-homocysteine methyltransferase
PPOX coding for protoporphyrinogen oxidase
PSEN2 coding for presenilin 2 (Alzheimer disease 4)
SDHB coding for succinate dehydrogenase complex subunit B
TNNT2 coding for cardiac troponin T2
USH2A coding for a gene that predisposes to Usher syndrome 2A (autosomal recessive, mild)