Chromosomal Genes Reference Guide

Chromosome 1

Development and Growth Genes

GBA (1q21)

Codes for beta-glucocerebrosidase enzyme involved in lipid metabolism

• Gaucher disease
• Increased risk for Parkinson's disease

MTHFR (1p36.3)

Methylenetetrahydrofolate reductase - folate metabolism

• Homocystinuria
• Increased cardiovascular risk
• Neural tube defects

Immune System Genes

PTPN22 (1p13)

T-cell receptor signaling regulation

• Type 1 diabetes
• Rheumatoid arthritis
• Systemic lupus erythematosus

Chromosome 2

Structural Proteins

COL3A1 (2q32.2)

Type III collagen synthesis

• Ehlers-Danlos syndrome type III
• Vascular rupture

Metabolic Genes

IRS1 (2q36)

Insulin receptor substrate 1 - glucose metabolism

• Type 2 diabetes susceptibility
• Insulin resistance

Chromosome 3

Growth Factors

VHL (3p25.3)

Tumor suppressor gene regulating cell growth

• Von Hippel-Lindau syndrome
• Renal cell carcinoma
• Hemangioblastomas

MLH1 (3p21.3)

DNA mismatch repair

• Lynch syndrome
• Hereditary nonpolyposis colorectal cancer

Chromosome 4

Neurological Development & Function

ADRA2C (4p16)

Alpha-2C adrenergic receptor - neurotransmitter regulation

• Heart failure risk
• Autonomic nervous system dysfunction

HTT (4p16.3)

Huntingtin protein - nerve cell maintenance

• Huntington's disease
• Juvenile Huntington's disease

Growth & Development

FGFR3 (4p16.3)

Fibroblast growth factor receptor 3 - bone growth regulation

• Achondroplasia
• Thanatophoric dysplasia
• SADDAN syndrome

PDGFRA (4q12)

Platelet-derived growth factor receptor alpha

• Gastrointestinal stromal tumors
• Neural tube defects

Chromosome 5

Blood Disorders & Cancer

APC (5q21-q22)

Adenomatous polyposis coli protein - tumor suppression

• Familial adenomatous polyposis
• Gardner syndrome
• Turcot syndrome

CSF1R (5q32)

Colony stimulating factor 1 receptor - blood cell development

• Adult-onset leukoencephalopathy
• Hereditary diffuse leukoencephalopathy

Growth & Development

NIPBL (5p13.2)

Nipped-B-like protein - chromatin structure regulation

• Cornelia de Lange syndrome

MSX2 (5q35.2)

Homeobox protein MSX-2 - skull development

• Craniosynostosis type 2
• Parietal foramina

Chromosome 6

Immune System

HLA Complex (6p21.3)

Human Leukocyte Antigens - immune system regulation

• Autoimmune diseases susceptibility
• Type 1 diabetes
• Rheumatoid arthritis
• Celiac disease
• Multiple sclerosis

TNF (6p21.3)

Tumor Necrosis Factor - inflammation regulation

• Inflammatory bowel disease
• Asthma susceptibility

Development & Metabolism

FOXO3 (6q21)

Forkhead box O3 - cell cycle regulation

• Age-related diseases
• Cancer susceptibility

PLAGL1 (6q24.2)

Pleiomorphic adenoma gene-like 1 - growth regulation

• Transient neonatal diabetes mellitus
• Growth disorders

PARK2 (6q26)

Parkin - protein degradation regulation

• Juvenile Parkinson's disease
• Early-onset Parkinson's disease

Chromosome 7

Ion Transport & Cellular Function

CFTR (7q31.2)

Cystic fibrosis transmembrane conductance regulator

• Cystic fibrosis
• Congenital bilateral absence of vas deferens
• Pancreatitis susceptibility

BRAF (7q34)

B-Raf proto-oncogene - cell growth regulation

• Cardiofaciocutaneous syndrome
• Melanoma
• Noonan syndrome

Development & Growth

HOXA Cluster (7p15.2)

Homeobox genes - embryonic development

• Hand-foot-genital syndrome
• Developmental abnormalities

Chromosome 8

Development & Disease

LPL (8p22)

Lipoprotein lipase - fat metabolism

• Familial lipoprotein lipase deficiency
• Hyperlipoproteinemia type I

GNRH1 (8p21.2)

Gonadotropin-releasing hormone 1

• Hypogonadotropic hypogonadism
• Kallmann syndrome

ZFHX4 (8q21.11)

Zinc finger homeobox 4 - neural development

• Postaxial polydactyly
• Developmental delays

Chromosome 9

Cell Cycle & Cancer

CDKN2A (9p21.3)

Cyclin-dependent kinase inhibitor 2A - cell cycle regulation

• Familial melanoma
• Pancreatic cancer susceptibility

JAK2 (9p24.1)

Janus kinase 2 - cell growth and division

• Polycythemia vera
• Essential thrombocythemia
• Primary myelofibrosis

Blood Groups

ABO (9q34.2)

ABO blood group system

• ABO blood type incompatibility
• Hemolytic disease of newborn

Chromosome 10

Endocrine Function

PTEN (10q23.31)

Phosphatase and tensin homolog - tumor suppression

• Cowden syndrome
• Bannayan-Riley-Ruvalcaba syndrome
• PTEN hamartoma tumor syndrome

RET (10q11.21)

RET proto-oncogene - neural crest development

• Multiple endocrine neoplasia type 2
• Hirschsprung disease
• Medullary thyroid carcinoma

Chromosome 11

Growth & Metabolism

INS (11p15.5)

Insulin - glucose metabolism

• Neonatal diabetes mellitus
• Familial hyperproinsulinemia

WT1 (11p13)

Wilms tumor protein - urogenital development

• Wilms tumor
• Denys-Drash syndrome
• Frasier syndrome

HBB (11p15.4)

Beta globin - hemoglobin component

• Beta thalassemia
• Sickle cell disease

Chromosome 12

Growth & Development

KRAS (12p12.1)

KRAS proto-oncogene - cell signaling

• Noonan syndrome
• Various cancers
• Cardio-facio-cutaneous syndrome

PAH (12q23.2)

Phenylalanine hydroxylase - amino acid metabolism

• Phenylketonuria
• Hyperphenylalaninemia

VWF (12p13.31)

von Willebrand factor - blood clotting

• von Willebrand disease
• Thrombotic thrombocytopenic purpura

Chromosome 13

Cancer & Development

RB1 (13q14.2)

Retinoblastoma protein - cell cycle regulation

• Retinoblastoma
• Osteosarcoma

BRCA2 (13q13.1)

Breast cancer type 2 susceptibility protein

• Hereditary breast cancer
• Ovarian cancer
• Fanconi anemia

Chromosome 14

Immune System & Development

TSHR (14q31.1)

Thyroid stimulating hormone receptor

• Hyperthyroidism
• Hypothyroidism

PSEN1 (14q24.2)

Presenilin 1 - protein processing

• Early-onset familial Alzheimer's disease
• Dilated cardiomyopathy

Chromosome 15

Development & Metabolism

HERC2/OCA2 (15q13.1)

Eye color determination

• Oculocutaneous albinism type 2
• Eye color variations

SNRPN (15q11.2)

Small nuclear ribonucleoprotein polypeptide N

• Prader-Willi syndrome
• Angelman syndrome

FBN1 (15q21.1)

Fibrillin 1 - connective tissue formation

• Marfan syndrome
• MASS syndrome
• Weill-Marchesani syndrome

Chromosome 16

Blood & Iron Metabolism

HBA1/HBA2 (16p13.3)

Alpha globin - hemoglobin component

• Alpha thalassemia
• Hemoglobin H disease

PKD1 (16p13.3)

Polycystin 1 - cell signaling

• Autosomal dominant polycystic kidney disease
• Tuberous sclerosis complex

CETP (16q13)

Cholesteryl ester transfer protein

• Hyperalphalipoproteinemia
• Coronary artery disease risk

Chromosome 17

Cancer & Development

BRCA1 (17q21.31)

DNA repair and tumor suppression

• Hereditary breast and ovarian cancer
• Triple-negative breast cancer
• Pancreatic cancer risk

TP53 (17p13.1)

Tumor protein p53 - cell cycle regulation

• Li-Fraumeni syndrome
• Various cancers

NF1 (17q11.2)

Neurofibromin 1 - tumor suppression

• Neurofibromatosis type 1
• Watson syndrome

Chromosome 18

Development & Disease

SMAD4 (18q21.2)

SMAD family member 4 - cell signaling

• Juvenile polyposis syndrome
• Hereditary hemorrhagic telangiectasia

MC4R (18q21.32)

Melanocortin 4 receptor - appetite regulation

• Early-onset obesity
• Autosomal dominant obesity

Chromosome 19

Metabolism & Transport

LDLR (19p13.2)

Low-density lipoprotein receptor

• Familial hypercholesterolemia
• Early coronary artery disease

APOE (19q13.32)

Apolipoprotein E - lipid transport

• Alzheimer's disease risk
• Hyperlipoproteinemia
• Cardiovascular disease risk

Chromosome 20

Development & Disease

PRNP (20p13)

Prion protein - nervous system maintenance

• Creutzfeldt-Jakob disease
• Fatal familial insomnia
• Gerstmann-Sträussler-Scheinker syndrome

JAG1 (20p12.2)

Jagged 1 - embryonic development

• Alagille syndrome
• Tetralogy of Fallot

Chromosome 21

Development & Disease

APP (21q21.3)

Amyloid precursor protein

• Early-onset Alzheimer's disease
• Cerebral amyloid angiopathy

SOD1 (21q22.11)

Superoxide dismutase 1 - antioxidant defense

• Amyotrophic lateral sclerosis
• Down syndrome complications

DSCR1 (21q22.12)

Down syndrome critical region 1

• Down syndrome features
• Cardiac defects

Chromosome 22

Development & Immunity

NEFH (22q12.2)

Neurofilament heavy polypeptide

• Amyotrophic lateral sclerosis
• Charcot-Marie-Tooth disease

NF2 (22q12.2)

Neurofibromin 2 - tumor suppression

• Neurofibromatosis type 2
• Schwannomatosis

COMT (22q11.21)

Catechol-O-methyltransferase

• 22q11.2 deletion syndrome
• Schizophrenia susceptibility

Chromosome X

Development & Disease

DMD (Xp21.2-p21.1)

Dystrophin - muscle fiber structure

• Duchenne muscular dystrophy
• Becker muscular dystrophy

FMR1 (Xq27.3)

FMRP translational regulator 1

• Fragile X syndrome
• FXTAS
• Primary ovarian insufficiency

MECP2 (Xq28)

Methyl-CpG binding protein 2

• Rett syndrome
• X-linked mental retardation

Chromosome Y

Sex Determination & Development

SRY (Yp11.2)

Sex determining region Y

• Swyer syndrome
• XY sex reversal

AZF (Yq11)

Azoospermia factors

• Male infertility
• Spermatogenic failure

Disclaimer

The notes provided on Pediatime are generated from online resources and AI sources and have been carefully checked for accuracy. However, these notes are not intended to replace standard textbooks. They are designed to serve as a quick review and revision tool for medical students and professionals, and to aid in theory exam preparation. For comprehensive learning, please refer to recommended textbooks and guidelines.