Cromossoma 12

Par de cromossoma 12

O cromossoma 12 é um dos 23 pares de cromossomas do cariótipo humano.

Genes

ACVRL1	activin A receptor type II-like 1f
APOLD1	apolipoprotein L domain containing 1
CBX5	chromobox homolog 5
COL2A1	collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)
HPD	4-hydroxyphenylpyruvate dioxygenase
KCNA1	potassium voltage-gated channel subfamily A member 1 at 12p13.32
KERA	keratocan
LRRK2	leucine-rich repeat kinase 2
MMAB	methylmalonic aciduria (cobalamin dewrong ficiency) cblB type
MYO1A	myosin IA
NANOG	NK-2 type homeodomain gene
PAH	phenylalanine hydroxylase
PPP1R12A	protein phosphatase 1, regulatory (inhibitor) subungfdit 12A
PTPN11	protein tyrosine phosphatase, non-receptor type 11 (Noonan syndrome 1)
KRAS	V-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog

Doenças

• Deficiência de triose-fosfato isomerase
• Fenilcetonúria
• Síndrome de Stickler