| Location |
Symbol |
Title |
MIM # |
Disorder |
Comments |
Method |
Mouse |
| 8q21 |
CYP11B1, P450C11, FHI |
Cytochrome P450, subfamily XIB, polypeptide 1 (11-beta-hydroxylase; corticosteroid methyl-oxidase II (CMO II)) |
610613 |
Adrenal hyperplasia, congenital, due to 11-beta-hydroxylasedeficiency, 202010 (3); Aldosteronism, glucocorticoid-remediable, 103900 (3) |
chimeric CYP11B1/CYP11B2 gene = anti-Lepore-like |
REa, A, Ch |
|
| 8q21 |
CYP11B2 |
Cytochrome P450, subfamily XIB, polypeptide 2 |
124080 |
Hypoaldosteronism, congenital, due to CMO II deficiency, 610600 (3);Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3); {Low renin hypertension, susceptibility to} (3); Aldosterone to renin ratioraised (3) |
|
REa |
|
| 8q21 |
FABP4 |
Fatty acid-binding protein-4, adipocyte |
600434 |
|
|
A |
|
| 8q21 |
HNF4G |
Hepatocyte nuclear factor 4-gamma |
605966 |
|
|
Psh, REc |
3(Hnf4g) |
| 8q21 |
MMP16 |
Matrix metalloproteinase 16 (membrane-inserted) |
602262 |
|
|
A |
|
| 8q21 |
NBS1, NBS |
Nibrin |
602667 |
Nijmegen breakage syndrome, 251260 (3); Leukemia, acutelymphoblastic (3) |
|
Fd, M |
|
| 8q21 |
WWP1, TIUL1 |
WW domain-containing protein 1 |
602307 |
|
|
A |
|
| 8q21.1 |
PXMP3, PAF1, PMP35, PEX2 |
Peroxisomal membrane protein-3, 35kD |
170993 |
Zellweger syndrome-3 (3); Refsum disease, infantile form, 266510 (3) |
|
RE |
3(Pxmp3) |
| 8q21.1-q21.3 |
MRPS28, MRPS35 |
Mitochondrial ribosomal protein S28 |
611990 |
|
|
R, REc |
|
| 8q21.1-qter |
GLYB |
Glycine auxotroph B, complementation of hamster |
138480 |
|
gly(-)B |
S |
|
| 8q21.11 |
TMEM70 |
Transmembrane protein 70 |
612418 |
Encephalocardiomyopathy, neonatal, mitochondrial, due to ATP synthasedeficiency, 604273 (3) |
|
REc |
|
| 8q21.12 |
ZFHX4, ZFH4 |
Zinc finger homeobox 4 |
606940 |
?Ptosis, congenital, 178300 (2) |
|
H, Ch |
|
| 8q21.13 |
FABP5, PAFABP, EFABP |
Fatty acid-binding protein 5 |
605168 |
|
|
H, REc |
3(Fabp5) |
| 8q21.13 |
STQTL15 |
Stature quantitative trait locus 15 |
612578 |
{Stature QTL 15} (2) |
associated with rs2220456 |
Fd |
|
| 8q21.13-q21.3 |
IMPA1 |
Inositol(myo)-1(or 4)-monophosphatase-1 |
602064 |
|
|
Psh, REc |
|
| 8q21.13-q22.1 |
TMEM67, MKS3, JBTS6 |
Transmembrane protein 67 (meckelin) |
609884 |
Meckel syndrome, type 3, 607361 (3); Joubert syndrome 6, 610688 (3);{Bardet-Biedl syndrome 14, modifier of}, 209900 (3) |
|
Fd, REc |
|
| 8q21.2 |
SLC25A32, MFT |
Solute carrier family 25 (mitochondrial carrier, folate), member 32 |
610815 |
|
|
REc |
15(Slc25a32) |
| 8q21.2 |
TMEM55A |
Transmembrane protein 55A |
609864 |
|
|
REc |
|
| 8q21.3 |
CPNE3, CPN3 |
Copine III |
604207 |
|
|
R, REc |
|
| 8q21.3 |
CYP7B1, CBAS3, SPG5A |
Cytochrome P450, subfamily VIIB (oxysterol 7-alpha-hydroxylase), polypeptide 1 |
603711 |
Bile acid synthesis defect, congenital, 3 (3); Spastic paraplegia-5A,270800 (3) |
|
R, Fd |
|
| 8q21.3 |
DECR1 |
2,4-dienoyl CoA reductase |
222745 |
?DECR deficiency (2) |
|
A |
|